rs143038880

Orientation

plus

Stabilized

plus

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

Make rs143038880(A;A)

Make rs143038880(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

196875776

Gene

PGAP1

is a	snp
is	mentioned by
dbSNP	rs143038880
dbSNP (classic)	rs143038880
ClinGen	rs143038880
ebi	rs143038880
HLI	rs143038880
Exac	rs143038880
Gnomad	rs143038880
Varsome	rs143038880
LitVar	rs143038880
Map	rs143038880
PheGenI	rs143038880
Biobank	rs143038880
1000 genomes	rs143038880
hgdp	rs143038880
ensembl	rs143038880
geneview	rs143038880
scholar	rs143038880
google	rs143038880
pharmgkb	rs143038880
gwascentral	rs143038880
openSNP	rs143038880
23andMe	rs143038880
SNPshot	rs143038880
SNPdbe	rs143038880
MSV3d	rs143038880
GWAS Ctlg	rs143038880

Max Magnitude

0

ClinVar
Risk	rs143038880(A;A)
Alt	rs143038880(A;A)
Reference	Rs143038880(G;G)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	PGAP1
CLNDBN	Mental retardation, autosomal recessive 42
Reversed	0
HGVS	NC_000002.11:g.197740500G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000208575.1,