rs115352435

Orientation

plus

Stabilized

plus

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

Make rs115352435(C;G)

Make rs115352435(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

46922414

Gene

GPT2

is a	snp
is	mentioned by
dbSNP	rs115352435
dbSNP (classic)	rs115352435
ClinGen	rs115352435
ebi	rs115352435
HLI	rs115352435
Exac	rs115352435
Gnomad	rs115352435
Varsome	rs115352435
LitVar	rs115352435
Map	rs115352435
PheGenI	rs115352435
Biobank	rs115352435
1000 genomes	rs115352435
hgdp	rs115352435
ensembl	rs115352435
geneview	rs115352435
scholar	rs115352435
google	rs115352435
pharmgkb	rs115352435
gwascentral	rs115352435
openSNP	rs115352435
23andMe	rs115352435
SNPshot	rs115352435
SNPdbe	rs115352435
MSV3d	rs115352435
GWAS Ctlg	rs115352435

Max Magnitude

0

ClinVar
Risk	rs115352435(G;G) rs115352435(T;T)
Alt	rs115352435(G;G) rs115352435(T;T)
Reference	Rs115352435(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	GPT2
CLNDBN	Mental retardation, autosomal recessive 49
Reversed	0
HGVS	NC_000016.9:g.46956326C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000241531.1,