rs786204834

Orientation

plus

Stabilized

plus

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

Make rs786204834(A;T)

Make rs786204834(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

140114797

Gene

PURA

is a	snp
is	mentioned by
dbSNP	rs786204834
dbSNP (classic)	rs786204834
ClinGen	rs786204834
ebi	rs786204834
HLI	rs786204834
Exac	rs786204834
Gnomad	rs786204834
Varsome	rs786204834
LitVar	rs786204834
Map	rs786204834
PheGenI	rs786204834
Biobank	rs786204834
1000 genomes	rs786204834
hgdp	rs786204834
ensembl	rs786204834
geneview	rs786204834
scholar	rs786204834
google	rs786204834
pharmgkb	rs786204834
gwascentral	rs786204834
openSNP	rs786204834
23andMe	rs786204834
SNPshot	rs786204834
SNPdbe	rs786204834
MSV3d	rs786204834
GWAS Ctlg	rs786204834

Max Magnitude

0

ClinVar
Risk	rs786204834(T;T)
Alt	rs786204834(T;T)
Reference	Rs786204834(A;A)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	PURA
CLNDBN	Mental retardation, autosomal dominant 31
Reversed	0
HGVS	NC_000005.9:g.139494382A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169738.4,