rs752281590

Orientation

plus

Stabilized

plus

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

Make rs752281590(A;A)

Make rs752281590(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

4814521

Gene

ITPR1

is a	snp
is	mentioned by
dbSNP	rs752281590
dbSNP (classic)	rs752281590
ClinGen	rs752281590
ebi	rs752281590
HLI	rs752281590
Exac	rs752281590
Gnomad	rs752281590
Varsome	rs752281590
LitVar	rs752281590
Map	rs752281590
PheGenI	rs752281590
Biobank	rs752281590
1000 genomes	rs752281590
hgdp	rs752281590
ensembl	rs752281590
geneview	rs752281590
scholar	rs752281590
google	rs752281590
pharmgkb	rs752281590
gwascentral	rs752281590
openSNP	rs752281590
23andMe	rs752281590
SNPshot	rs752281590
SNPdbe	rs752281590
MSV3d	rs752281590
GWAS Ctlg	rs752281590

Max Magnitude

0

ClinVar
Risk	rs752281590(A;A) rs752281590(C;C)
Alt	rs752281590(A;A) rs752281590(C;C)
Reference	Rs752281590(G;G)
Significance	Pathogenic
Disease	Gillespie syndrome
Variation	info
Gene	ITPR1
CLNDBN	Gillespie syndrome
Reversed	0
HGVS	NC_000003.11:g.4856205G>A; NC_000003.11:g.4856205G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000224995.2, RCV000224996.2,