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rs761993070

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs761993070(C;T)
Make rs761993070(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position142759813
GeneHIVEP2
is asnp
is mentioned by
dbSNPrs761993070
ebirs761993070
HLIrs761993070
Exacrs761993070
Varsomers761993070
Maprs761993070
PheGenIrs761993070
hapmaprs761993070
1000 genomesrs761993070
hgdprs761993070
ensemblrs761993070
gopubmedrs761993070
geneviewrs761993070
scholarrs761993070
googlers761993070
pharmgkbrs761993070
gwascentralrs761993070
openSNPrs761993070
23andMers761993070
23andMe allrs761993070
SNP Nexus

SNPshotrs761993070
SNPdbers761993070
MSV3drs761993070
GWAS Ctlgrs761993070
Max Magnitude0
ClinVar
Risk rs761993070(G,T;G,T)
Alt rs761993070(G,T;G,T)
Reference rs761993070(C;C)
Significance Pathogenic
Disease not provided Mental retardation
Variation info
Gene HIVEP2
CLNDBN not provided Mental retardation, autosomal dominant 43
Reversed 0
HGVS NC_000006.11:g.143080950C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210369.1, RCV000225138.1,