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rs869312844

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312844(-;-)
Make rs869312844(-;G)
Make rs869312844(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position142761469
GeneHIVEP2
is asnp
is mentioned by
dbSNPrs869312844
ebirs869312844
HLIrs869312844
Exacrs869312844
Varsomers869312844
Maprs869312844
PheGenIrs869312844
hapmaprs869312844
1000 genomesrs869312844
hgdprs869312844
ensemblrs869312844
gopubmedrs869312844
geneviewrs869312844
scholarrs869312844
googlers869312844
pharmgkbrs869312844
gwascentralrs869312844
openSNPrs869312844
23andMers869312844
23andMe allrs869312844
SNP Nexus

SNPshotrs869312844
SNPdbers869312844
MSV3drs869312844
GWAS Ctlgrs869312844
Max Magnitude0
ClinVar
Risk rs869312844(G;G)
Alt rs869312844(G;G)
Reference rs869312844(;)
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.143082607dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000210364.1, RCV000225303.1,