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rs318240758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs318240758(A;A)
Make rs318240758(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153963263
GeneHCFC1
is asnp
is mentioned by
dbSNPrs318240758
ebirs318240758
HLIrs318240758
Exacrs318240758
Varsomers318240758
Maprs318240758
PheGenIrs318240758
hapmaprs318240758
1000 genomesrs318240758
hgdprs318240758
ensemblrs318240758
gopubmedrs318240758
geneviewrs318240758
scholarrs318240758
googlers318240758
pharmgkbrs318240758
gwascentralrs318240758
openSNPrs318240758
23andMers318240758
23andMe allrs318240758
SNP Nexus

SNPshotrs318240758
SNPdbers318240758
MSV3drs318240758
GWAS Ctlgrs318240758
Max Magnitude0
ClinVar
Risk rs318240758(A;A)
Alt rs318240758(A;A)
Reference rs318240758(G;G)
Significance Pathogenic
Disease Mental retardation 3 not provided
Variation info
Gene HCFC1
CLNDBN Mental retardation 3, X-linked not provided
Reversed 1
HGVS NC_000023.10:g.153228714C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000032897.23, RCV000059786.1,