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rs398122939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122939(C;T)
Make rs398122939(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position64917857
GeneZC4H2
is asnp
is mentioned by
dbSNPrs398122939
ebirs398122939
HLIrs398122939
Exacrs398122939
Varsomers398122939
Maprs398122939
PheGenIrs398122939
hapmaprs398122939
1000 genomesrs398122939
hgdprs398122939
ensemblrs398122939
gopubmedrs398122939
geneviewrs398122939
scholarrs398122939
googlers398122939
pharmgkbrs398122939
gwascentralrs398122939
openSNPrs398122939
23andMers398122939
23andMe allrs398122939
SNP Nexus

SNPshotrs398122939
SNPdbers398122939
MSV3drs398122939
GWAS Ctlgrs398122939
Max Magnitude0
ClinVar
Risk rs398122939(T;T)
Alt rs398122939(T;T)
Reference rs398122939(C;C)
Significance Pathogenic
Disease Wieacker syndrome
Variation info
Gene ZC4H2
CLNDBN Wieacker syndrome
Reversed 1
HGVS NC_000023.10:g.64137737G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043678.4,