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rs869312843

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312843(G;T)
Make rs869312843(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position142771882
GeneHIVEP2
is asnp
is mentioned by
dbSNPrs869312843
dbSNP (old)rs869312843
ClinGenrs869312843
ebirs869312843
HLIrs869312843
Exacrs869312843
Gnomadrs869312843
Varsomers869312843
Maprs869312843
PheGenIrs869312843
Biobankrs869312843
1000 genomesrs869312843
hgdprs869312843
ensemblrs869312843
gopubmedrs869312843
geneviewrs869312843
scholarrs869312843
googlers869312843
pharmgkbrs869312843
gwascentralrs869312843
openSNPrs869312843
23andMers869312843
23andMe allrs869312843
SNP Nexus

SNPshotrs869312843
SNPdbers869312843
MSV3drs869312843
GWAS Ctlgrs869312843
Max Magnitude0
ClinVar
Risk rs869312843(T;T)
Alt rs869312843(T;T)
Reference Rs869312843(G;G)
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.143093019C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210373.1, RCV000225219.1,