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rs193929392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929392(A;A)
Make rs193929392(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position11118574
GeneHCCS
is asnp
is mentioned by
dbSNPrs193929392
ebirs193929392
HLIrs193929392
Exacrs193929392
Varsomers193929392
Maprs193929392
PheGenIrs193929392
hapmaprs193929392
1000 genomesrs193929392
hgdprs193929392
ensemblrs193929392
gopubmedrs193929392
geneviewrs193929392
scholarrs193929392
googlers193929392
pharmgkbrs193929392
gwascentralrs193929392
openSNPrs193929392
23andMers193929392
23andMe allrs193929392
SNP Nexus

SNPshotrs193929392
SNPdbers193929392
MSV3drs193929392
GWAS Ctlgrs193929392
Max Magnitude0
ClinVar
Risk rs193929392(A;A)
Alt rs193929392(A;A)
Reference rs193929392(G;G)
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.11136694G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020630.1,