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rs121917819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917819(C;T)
Make rs121917819(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31116972
GeneCDSN, PSORS1C1
is asnp
is mentioned by
dbSNPrs121917819
dbSNP (classic)rs121917819
ClinGenrs121917819
ebirs121917819
HLIrs121917819
Exacrs121917819
Gnomadrs121917819
Varsomers121917819
LitVarrs121917819
Maprs121917819
PheGenIrs121917819
Biobankrs121917819
1000 genomesrs121917819
hgdprs121917819
ensemblrs121917819
geneviewrs121917819
scholarrs121917819
googlers121917819
pharmgkbrs121917819
gwascentralrs121917819
openSNPrs121917819
23andMers121917819
SNPshotrs121917819
SNPdbers121917819
MSV3drs121917819
GWAS Ctlgrs121917819
Max Magnitude0
ClinVar
Risk rs121917819(G;G) rs121917819(T;T)
Alt rs121917819(G;G) rs121917819(T;T)
Reference Rs121917819(C;C)
Significance Pathogenic
Disease Hypotrichosis 2
Variation info
Gene CDSN PSORS1C1
CLNDBN Hypotrichosis 2
Reversed 1
HGVS NC_000006.11:g.31084749G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007412.3,