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rs1060505036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060505036(C;T)
Make rs1060505036(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position113794895
GeneATP6V1A
is asnp
is mentioned by
dbSNPrs1060505036
dbSNP (old)rs1060505036
ClinGenrs1060505036
ebirs1060505036
HLIrs1060505036
Exacrs1060505036
Gnomadrs1060505036
Varsomers1060505036
LitVarrs1060505036
Maprs1060505036
PheGenIrs1060505036
Biobankrs1060505036
1000 genomesrs1060505036
hgdprs1060505036
ensemblrs1060505036
gopubmedrs1060505036
geneviewrs1060505036
scholarrs1060505036
googlers1060505036
pharmgkbrs1060505036
gwascentralrs1060505036
openSNPrs1060505036
23andMers1060505036
23andMe allrs1060505036
SNPshotrs1060505036
SNPdbers1060505036
MSV3drs1060505036
GWAS Ctlgrs1060505036
Max Magnitude0
ClinVar
Risk rs1060505036(T;T)
Alt rs1060505036(T;T)
Reference Rs1060505036(C;C)
Significance Pathogenic
Disease CUTIS LAXA
Variation info
Gene ATP6V1A
CLNDBN CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Reversed 0
HGVS NC_000003.11:g.113513742C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477739.1,