rs587777202

Orientation

plus

Stabilized

plus

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

Make rs587777202(A;A)

Make rs587777202(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

196847946

Gene

PGAP1

is a	snp
is	mentioned by
dbSNP	rs587777202
dbSNP (classic)	rs587777202
ClinGen	rs587777202
ebi	rs587777202
HLI	rs587777202
Exac	rs587777202
Gnomad	rs587777202
Varsome	rs587777202
LitVar	rs587777202
Map	rs587777202
PheGenI	rs587777202
Biobank	rs587777202
1000 genomes	rs587777202
hgdp	rs587777202
ensembl	rs587777202
geneview	rs587777202
scholar	rs587777202
google	rs587777202
pharmgkb	rs587777202
gwascentral	rs587777202
openSNP	rs587777202
23andMe	rs587777202
SNPshot	rs587777202
SNPdbe	rs587777202
MSV3d	rs587777202
GWAS Ctlg	rs587777202

Max Magnitude

0

ClinVar
Risk	rs587777202(A;A) rs587777202(G;G) rs587777202(T;T)
Alt	rs587777202(A;A) rs587777202(G;G) rs587777202(T;T)
Reference	Rs587777202(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	PGAP1
CLNDBN	Mental retardation, autosomal recessive 42
Reversed	0
HGVS	NC_000002.11:g.197712670C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087334.4,