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

rs1060505031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060505031(C;C)
Make rs1060505031(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position17600079
GeneATP6V1E1
is asnp
is mentioned by
dbSNPrs1060505031
dbSNP (old)rs1060505031
ClinGenrs1060505031
ebirs1060505031
HLIrs1060505031
Exacrs1060505031
Gnomadrs1060505031
Varsomers1060505031
LitVarrs1060505031
Maprs1060505031
PheGenIrs1060505031
Biobankrs1060505031
1000 genomesrs1060505031
hgdprs1060505031
ensemblrs1060505031
gopubmedrs1060505031
geneviewrs1060505031
scholarrs1060505031
googlers1060505031
pharmgkbrs1060505031
gwascentralrs1060505031
openSNPrs1060505031
23andMers1060505031
23andMe allrs1060505031
SNPshotrs1060505031
SNPdbers1060505031
MSV3drs1060505031
GWAS Ctlgrs1060505031
Max Magnitude0
ClinVar
Risk rs1060505031(C;C)
Alt rs1060505031(C;C)
Reference Rs1060505031(T;T)
Significance Pathogenic
Disease CUTIS LAXA
Variation info
Gene ATP6V1E1
CLNDBN CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
Reversed 1
HGVS NC_000022.10:g.18082845A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000477698.1,