rs587777378

Orientation

plus

Stabilized

plus

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

Make rs587777378(-;-)

Make rs587777378(-;AAG)

Reference

GRCh38 38.1/142

Chromosome

2

Position

196912940

Gene

PGAP1

is a	snp
is	mentioned by
dbSNP	rs587777378
dbSNP (classic)	rs587777378
ClinGen	rs587777378
ebi	rs587777378
HLI	rs587777378
Exac	rs587777378
Gnomad	rs587777378
Varsome	rs587777378
LitVar	rs587777378
Map	rs587777378
PheGenI	rs587777378
Biobank	rs587777378
1000 genomes	rs587777378
hgdp	rs587777378
ensembl	rs587777378
geneview	rs587777378
scholar	rs587777378
google	rs587777378
pharmgkb	rs587777378
gwascentral	rs587777378
openSNP	rs587777378
23andMe	rs587777378
SNPshot	rs587777378
SNPdbe	rs587777378
MSV3d	rs587777378
GWAS Ctlg	rs587777378

Max Magnitude

0

ClinVar
Risk	rs587777378(-;-)
Alt	rs587777378(-;-)
Reference	Rs587777378(AAG;AAG)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	PGAP1
CLNDBN	Mental retardation, autosomal recessive 42
Reversed	0
HGVS	NC_000002.11:g.197777664_197777666delAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000118980.4,