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

rs121917889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917889(C;T)
Make rs121917889(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11121652
GeneHCCS
is asnp
is mentioned by
dbSNPrs121917889
ebirs121917889
HLIrs121917889
Exacrs121917889
Varsomers121917889
Maprs121917889
PheGenIrs121917889
hapmaprs121917889
1000 genomesrs121917889
hgdprs121917889
ensemblrs121917889
gopubmedrs121917889
geneviewrs121917889
scholarrs121917889
googlers121917889
pharmgkbrs121917889
gwascentralrs121917889
openSNPrs121917889
23andMers121917889
23andMe allrs121917889
SNP Nexus

SNPshotrs121917889
SNPdbers121917889
MSV3drs121917889
GWAS Ctlgrs121917889
Max Magnitude0
ClinVar
Risk rs121917889(T;T)
Alt rs121917889(T;T)
Reference rs121917889(C;C)
Significance Pathogenic
Disease Linear skin defects with multiple congenital anomalies 1
Variation info
Gene HCCS
CLNDBN Linear skin defects with multiple congenital anomalies 1
Reversed 0
HGVS NC_000023.10:g.11139772C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020632.4,