rs869025579

Orientation

minus

Stabilized

minus

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

Make rs869025579(-;-)

Make rs869025579(-;CCT)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

196920022

Gene

PGAP1

is a	snp
is	mentioned by
dbSNP	rs869025579
dbSNP (classic)	rs869025579
ClinGen	rs869025579
ebi	rs869025579
HLI	rs869025579
Exac	rs869025579
Gnomad	rs869025579
Varsome	rs869025579
LitVar	rs869025579
Map	rs869025579
PheGenI	rs869025579
Biobank	rs869025579
1000 genomes	rs869025579
hgdp	rs869025579
ensembl	rs869025579
geneview	rs869025579
scholar	rs869025579
google	rs869025579
pharmgkb	rs869025579
gwascentral	rs869025579
openSNP	rs869025579
23andMe	rs869025579
SNPshot	rs869025579
SNPdbe	rs869025579
MSV3d	rs869025579
GWAS Ctlg	rs869025579

Max Magnitude

0

ClinVar
Risk	rs869025579(-;-)
Alt	rs869025579(-;-)
Reference	Rs869025579(CCT;CCT)
Significance	Pathogenic
Disease	Mental retardation Cerebral visual impairment and intellectual disability
Variation	info
Gene	PGAP1
CLNDBN	Mental retardation, autosomal recessive 42 Cerebral visual impairment and intellectual disability
Reversed	1
HGVS	NC_000002.11:g.197784746_197784748delAGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000208579.1, RCV000210383.1,