1 |
GHRL
|
NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln)
|
single nucleotide variant |
risk factor |
rs34911341
|
GRCh37 |
Chromosome 3, 10331519: 10331519 |
2 |
GHRL
|
NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln)
|
single nucleotide variant |
risk factor |
rs34911341
|
GRCh38 |
Chromosome 3, 10289835: 10289835 |
3 |
GHRL
|
NM_001134944.1(GHRL): c.178C> A (p.Leu60Met)
|
single nucleotide variant |
Pathogenic,risk factor |
rs696217
|
GRCh37 |
Chromosome 3, 10331457: 10331457 |
4 |
GHRL
|
NM_001134944.1(GHRL): c.178C> A (p.Leu60Met)
|
single nucleotide variant |
Pathogenic,risk factor |
rs696217
|
GRCh38 |
Chromosome 3, 10289773: 10289773 |
5 |
HADH
|
NM_005327.4(HADH): c.118G> A (p.Ala40Thr)
|
single nucleotide variant |
Pathogenic |
rs137853101
|
GRCh37 |
Chromosome 4, 108911206: 108911206 |
6 |
HADH
|
NM_005327.4(HADH): c.118G> A (p.Ala40Thr)
|
single nucleotide variant |
Pathogenic |
rs137853101
|
GRCh38 |
Chromosome 4, 107990050: 107990050 |
7 |
HADH
|
NM_005327.4(HADH): c.171C> A (p.Asp57Glu)
|
single nucleotide variant |
Pathogenic |
rs137853102
|
GRCh37 |
Chromosome 4, 108930953: 108930953 |
8 |
HADH
|
NM_005327.4(HADH): c.171C> A (p.Asp57Glu)
|
single nucleotide variant |
Pathogenic |
rs137853102
|
GRCh38 |
Chromosome 4, 108009797: 108009797 |
9 |
NOS3
|
NM_000603.4(NOS3): c.894T> G (p.Asp298Glu)
|
single nucleotide variant |
Benign |
rs1799983
|
GRCh37 |
Chromosome 7, 150696111: 150696111 |
10 |
NOS3
|
NM_000603.4(NOS3): c.894T> G (p.Asp298Glu)
|
single nucleotide variant |
Benign |
rs1799983
|
GRCh38 |
Chromosome 7, 150999023: 150999023 |
11 |
ADRB2
|
NM_000024.5(ADRB2): c.46A> G (p.Arg16Gly)
|
single nucleotide variant |
risk factor |
rs1042713
|
GRCh37 |
Chromosome 5, 148206440: 148206440 |
12 |
ADRB2
|
NM_000024.5(ADRB2): c.46A> G (p.Arg16Gly)
|
single nucleotide variant |
risk factor |
rs1042713
|
GRCh38 |
Chromosome 5, 148826877: 148826877 |
13 |
ADRB2
|
NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu)
|
single nucleotide variant |
risk factor |
rs1042714
|
GRCh37 |
Chromosome 5, 148206473: 148206473 |
14 |
ADRB2
|
NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu)
|
single nucleotide variant |
risk factor |
rs1042714
|
GRCh38 |
Chromosome 5, 148826910: 148826910 |
15 |
LMNA
|
NM_170707.3(LMNA): c.1892G> A (p.Gly631Asp)
|
single nucleotide variant |
Uncertain significance |
rs267607648
|
GRCh37 |
Chromosome 1, 156108472: 156108472 |
16 |
LMNA
|
NM_170707.3(LMNA): c.1892G> A (p.Gly631Asp)
|
single nucleotide variant |
Uncertain significance |
rs267607648
|
GRCh38 |
Chromosome 1, 156138681: 156138681 |
17 |
HADH
|
NM_001184705.2(HADH): c.676T> C (p.Tyr226His)
|
single nucleotide variant |
Likely pathogenic |
rs146036912
|
GRCh38 |
Chromosome 4, 108027727: 108027727 |
18 |
HADH
|
NM_001184705.2(HADH): c.676T> C (p.Tyr226His)
|
single nucleotide variant |
Likely pathogenic |
rs146036912
|
GRCh37 |
Chromosome 4, 108948883: 108948883 |
19 |
HADH
|
NM_001184705.2(HADH): c.636+13G> A
|
single nucleotide variant |
Benign/Likely benign |
rs17511214
|
GRCh37 |
Chromosome 4, 108944732: 108944732 |
20 |
HADH
|
NM_001184705.2(HADH): c.636+13G> A
|
single nucleotide variant |
Benign/Likely benign |
rs17511214
|
GRCh38 |
Chromosome 4, 108023576: 108023576 |
21 |
HADH
|
NM_005327.4(HADH): c.-51delC
|
deletion |
Uncertain significance |
rs574132278
|
GRCh38 |
Chromosome 4, 107989882: 107989882 |
22 |
HADH
|
NM_005327.4(HADH): c.-51delC
|
deletion |
Uncertain significance |
rs574132278
|
GRCh37 |
Chromosome 4, 108911038: 108911038 |
23 |
HADH
|
NM_005327.4(HADH): c.-38T> C
|
single nucleotide variant |
Benign |
rs17550794
|
GRCh38 |
Chromosome 4, 107989895: 107989895 |
24 |
HADH
|
NM_005327.4(HADH): c.-38T> C
|
single nucleotide variant |
Benign |
rs17550794
|
GRCh37 |
Chromosome 4, 108911051: 108911051 |
25 |
HADH
|
NM_005327.4(HADH): c.21G> A (p.Gln7=)
|
single nucleotide variant |
Uncertain significance |
rs886058980
|
GRCh38 |
Chromosome 4, 107989953: 107989953 |
26 |
HADH
|
NM_005327.4(HADH): c.21G> A (p.Gln7=)
|
single nucleotide variant |
Uncertain significance |
rs886058980
|
GRCh37 |
Chromosome 4, 108911109: 108911109 |
27 |
HADH
|
NM_005327.4(HADH): c.240G> A (p.Lys80=)
|
single nucleotide variant |
Uncertain significance |
rs748623569
|
GRCh38 |
Chromosome 4, 108009866: 108009866 |
28 |
HADH
|
NM_005327.4(HADH): c.240G> A (p.Lys80=)
|
single nucleotide variant |
Uncertain significance |
rs748623569
|
GRCh37 |
Chromosome 4, 108931022: 108931022 |
29 |
HADH
|
NM_005327.4(HADH): c.*305T> A
|
single nucleotide variant |
Uncertain significance |
rs3822294
|
GRCh38 |
Chromosome 4, 108034662: 108034662 |
30 |
HADH
|
NM_005327.4(HADH): c.*305T> A
|
single nucleotide variant |
Uncertain significance |
rs3822294
|
GRCh37 |
Chromosome 4, 108955818: 108955818 |
31 |
HADH
|
NM_005327.4(HADH): c.*661dupT
|
duplication |
Uncertain significance |
rs886058981
|
GRCh38 |
Chromosome 4, 108035018: 108035018 |
32 |
HADH
|
NM_005327.4(HADH): c.*661dupT
|
duplication |
Uncertain significance |
rs886058981
|
GRCh37 |
Chromosome 4, 108956174: 108956174 |
33 |
HADH
|
NM_005327.4(HADH): c.-193G> A
|
single nucleotide variant |
Likely benign |
rs10017687
|
GRCh37 |
Chromosome 4, 108910896: 108910896 |
34 |
HADH
|
NM_005327.4(HADH): c.-193G> A
|
single nucleotide variant |
Likely benign |
rs10017687
|
GRCh38 |
Chromosome 4, 107989740: 107989740 |
35 |
HADH
|
NM_005327.4(HADH): c.-71C> T
|
single nucleotide variant |
Likely benign |
rs760202
|
GRCh37 |
Chromosome 4, 108911018: 108911018 |
36 |
HADH
|
NM_005327.4(HADH): c.-71C> T
|
single nucleotide variant |
Likely benign |
rs760202
|
GRCh38 |
Chromosome 4, 107989862: 107989862 |
37 |
HADH
|
NM_005327.4(HADH): c.-36C> T
|
single nucleotide variant |
Uncertain significance |
rs746854470
|
GRCh38 |
Chromosome 4, 107989897: 107989897 |
38 |
HADH
|
NM_005327.4(HADH): c.-36C> T
|
single nucleotide variant |
Uncertain significance |
rs746854470
|
GRCh37 |
Chromosome 4, 108911053: 108911053 |
39 |
HADH
|
NM_005327.4(HADH): c.291G> T (p.Leu97=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs552317372
|
GRCh38 |
Chromosome 4, 108014460: 108014460 |
40 |
HADH
|
NM_005327.4(HADH): c.291G> T (p.Leu97=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs552317372
|
GRCh37 |
Chromosome 4, 108935616: 108935616 |
41 |
HADH
|
NM_005327.4(HADH): c.*600C> T
|
single nucleotide variant |
Uncertain significance |
rs544321475
|
GRCh38 |
Chromosome 4, 108034957: 108034957 |
42 |
HADH
|
NM_005327.4(HADH): c.*600C> T
|
single nucleotide variant |
Uncertain significance |
rs544321475
|
GRCh37 |
Chromosome 4, 108956113: 108956113 |
43 |
HADH
|
NM_005327.4(HADH): c.*818A> G
|
single nucleotide variant |
Likely benign |
rs17511319
|
GRCh38 |
Chromosome 4, 108035175: 108035175 |
44 |
HADH
|
NM_005327.4(HADH): c.*818A> G
|
single nucleotide variant |
Likely benign |
rs17511319
|
GRCh37 |
Chromosome 4, 108956331: 108956331 |
45 |
HADH
|
NM_005327.4(HADH): c.-195A> C
|
single nucleotide variant |
Uncertain significance |
rs886058979
|
GRCh37 |
Chromosome 4, 108910894: 108910894 |
46 |
HADH
|
NM_005327.4(HADH): c.-195A> C
|
single nucleotide variant |
Uncertain significance |
rs886058979
|
GRCh38 |
Chromosome 4, 107989738: 107989738 |
47 |
HADH
|
NM_005327.4(HADH): c.-115delG
|
deletion |
Uncertain significance |
rs537335460
|
GRCh37 |
Chromosome 4, 108910974: 108910974 |
48 |
HADH
|
NM_005327.4(HADH): c.-115delG
|
deletion |
Uncertain significance |
rs537335460
|
GRCh38 |
Chromosome 4, 107989818: 107989818 |
49 |
HADH
|
NM_005327.4(HADH): c.-102G> A
|
single nucleotide variant |
Likely benign |
rs182097151
|
GRCh37 |
Chromosome 4, 108910987: 108910987 |
50 |
HADH
|
NM_005327.4(HADH): c.-102G> A
|
single nucleotide variant |
Likely benign |
rs182097151
|
GRCh38 |
Chromosome 4, 107989831: 107989831 |