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rs864321631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8.3 Mental retardation, syndromic 33, X-linked
(C;G) 3 Carrier of a mutation for an X-linked form of mental retardation, syndromic 33
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71392653
GeneTAF1
is asnp
is mentioned by
dbSNPrs864321631
dbSNP (old)rs864321631
ClinGenrs864321631
ebirs864321631
HLIrs864321631
Exacrs864321631
Gnomadrs864321631
Varsomers864321631
Maprs864321631
PheGenIrs864321631
Biobankrs864321631
1000 genomesrs864321631
hgdprs864321631
ensemblrs864321631
gopubmedrs864321631
geneviewrs864321631
scholarrs864321631
googlers864321631
pharmgkbrs864321631
gwascentralrs864321631
openSNPrs864321631
23andMers864321631
23andMe allrs864321631
SNP Nexus

SNPshotrs864321631
SNPdbers864321631
MSV3drs864321631
GWAS Ctlgrs864321631
Max Magnitude8.3

c.2926G>C (p.Asp976His)

ClinVar
Risk Rs864321631(C;C)
Alt Rs864321631(C;C)
Reference Rs864321631(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TAF1
CLNDBN Mental retardation, X-linked, syndromic 33
Reversed 0
HGVS NC_000023.10:g.70612503G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000203549.2,