rs587777914

Merged into

rs281865014

Orientation

minus

Stabilized

minus

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

Make rs587777914(-;A)

Make rs587777914(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

101757578

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs587777914
dbSNP (classic)	rs587777914
ClinGen	rs587777914
ebi	rs587777914
HLI	rs587777914
Exac	rs587777914
Gnomad	rs587777914
Varsome	rs587777914
LitVar	rs587777914
Map	rs587777914
PheGenI	rs587777914
Biobank	rs587777914
1000 genomes	rs587777914
hgdp	rs587777914
ensembl	rs587777914
geneview	rs587777914
scholar	rs587777914
google	rs587777914
pharmgkb	rs587777914
gwascentral	rs587777914
openSNP	rs587777914
23andMe	rs587777914
SNPshot	rs587777914
SNPdbe	rs587777914
MSV3d	rs587777914
GWAS Ctlg	rs587777914

Status

Merged into rs281865014

Max Magnitude

0

ClinVar
Risk	rs587777914(A;A)
Alt	rs587777914(A;A)
Reference	Rs587777914(;)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102151357dupT
CLNSRC
CLNACC	RCV000032335.1,