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rs398122908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs398122908(A;G)
Make rs398122908(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153971810
GeneHCFC1, TMEM187
is asnp
is mentioned by
dbSNPrs398122908
dbSNP (classic)rs398122908
ClinGenrs398122908
ebirs398122908
HLIrs398122908
Exacrs398122908
Gnomadrs398122908
Varsomers398122908
LitVarrs398122908
Maprs398122908
PheGenIrs398122908
Biobankrs398122908
1000 genomesrs398122908
hgdprs398122908
ensemblrs398122908
geneviewrs398122908
scholarrs398122908
googlers398122908
pharmgkbrs398122908
gwascentralrs398122908
openSNPrs398122908
23andMers398122908
SNPshotrs398122908
SNPdbers398122908
MSV3drs398122908
GWAS Ctlgrs398122908
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs398122908(C;C)
Alt rs398122908(C;C)
Reference Rs398122908(T;T)
Significance Pathogenic
Disease Mental retardation 3
Variation info
Gene TMEM187 HCFC1
CLNDBN Mental retardation 3, X-linked
Reversed 1
HGVS NC_000023.10:g.153237261A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032896.25,