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rs121917888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917888(C;T)
Make rs121917888(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11120974
GeneHCCS
is asnp
is mentioned by
dbSNPrs121917888
ebirs121917888
HLIrs121917888
Exacrs121917888
Varsomers121917888
Maprs121917888
PheGenIrs121917888
hapmaprs121917888
1000 genomesrs121917888
hgdprs121917888
ensemblrs121917888
gopubmedrs121917888
geneviewrs121917888
scholarrs121917888
googlers121917888
pharmgkbrs121917888
gwascentralrs121917888
openSNPrs121917888
23andMers121917888
23andMe allrs121917888
SNP Nexus

SNPshotrs121917888
SNPdbers121917888
MSV3drs121917888
GWAS Ctlgrs121917888
Max Magnitude0
ClinVar
Risk rs121917888(T;T)
Alt rs121917888(T;T)
Reference rs121917888(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.11139094C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020631.4,


OMIM309801
Desc
Variant
Relatedalso