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rs869312841

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312841(C;T)
Make rs869312841(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position142771912
GeneHIVEP2
is asnp
is mentioned by
dbSNPrs869312841
ebirs869312841
HLIrs869312841
Exacrs869312841
Varsomers869312841
Maprs869312841
PheGenIrs869312841
hapmaprs869312841
1000 genomesrs869312841
hgdprs869312841
ensemblrs869312841
gopubmedrs869312841
geneviewrs869312841
scholarrs869312841
googlers869312841
pharmgkbrs869312841
gwascentralrs869312841
openSNPrs869312841
23andMers869312841
23andMe allrs869312841
SNP Nexus

SNPshotrs869312841
SNPdbers869312841
MSV3drs869312841
GWAS Ctlgrs869312841
Max Magnitude0
ClinVar
Risk rs869312841(T;T)
Alt rs869312841(T;T)
Reference rs869312841(C;C)
Significance Pathogenic
Disease not provided Mental retardation
Variation info
Gene HIVEP2
CLNDBN not provided Mental retardation, autosomal dominant 43
Reversed 1
HGVS NC_000006.11:g.143093049G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210372.1, RCV000225218.1,