rs869312843

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs869312843(G;T)

Make rs869312843(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

142771882

Gene

HIVEP2

is a	snp
is	mentioned by
dbSNP	rs869312843
dbSNP (classic)	rs869312843
ClinGen	rs869312843
ebi	rs869312843
HLI	rs869312843
Exac	rs869312843
Gnomad	rs869312843
Varsome	rs869312843
LitVar	rs869312843
Map	rs869312843
PheGenI	rs869312843
Biobank	rs869312843
1000 genomes	rs869312843
hgdp	rs869312843
ensembl	rs869312843
geneview	rs869312843
scholar	rs869312843
google	rs869312843
pharmgkb	rs869312843
gwascentral	rs869312843
openSNP	rs869312843
23andMe	rs869312843
SNPshot	rs869312843
SNPdbe	rs869312843
MSV3d	rs869312843
GWAS Ctlg	rs869312843

Max Magnitude

0

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,