Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060505037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060505037(A;A)
Make rs1060505037(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position113784227
GeneATP6V1A
is asnp
is mentioned by
dbSNPrs1060505037
dbSNP (old)rs1060505037
ClinGenrs1060505037
ebirs1060505037
HLIrs1060505037
Exacrs1060505037
Gnomadrs1060505037
Varsomers1060505037
LitVarrs1060505037
Maprs1060505037
PheGenIrs1060505037
Biobankrs1060505037
1000 genomesrs1060505037
hgdprs1060505037
ensemblrs1060505037
gopubmedrs1060505037
geneviewrs1060505037
scholarrs1060505037
googlers1060505037
pharmgkbrs1060505037
gwascentralrs1060505037
openSNPrs1060505037
23andMers1060505037
23andMe allrs1060505037
SNPshotrs1060505037
SNPdbers1060505037
MSV3drs1060505037
GWAS Ctlgrs1060505037
Max Magnitude0
ClinVar
Risk rs1060505037(A;A)
Alt rs1060505037(A;A)
Reference Rs1060505037(G;G)
Significance Pathogenic
Disease CUTIS LAXA
Variation info
Gene ATP6V1A
CLNDBN CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Reversed 0
HGVS NC_000003.11:g.113503074G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477689.1,