rs786204832

Orientation

minus

Stabilized

minus

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

Make rs786204832(A;A)

Make rs786204832(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

26400166

Gene

ITPR2

is a	snp
is	mentioned by
dbSNP	rs786204832
dbSNP (classic)	rs786204832
ClinGen	rs786204832
ebi	rs786204832
HLI	rs786204832
Exac	rs786204832
Gnomad	rs786204832
Varsome	rs786204832
LitVar	rs786204832
Map	rs786204832
PheGenI	rs786204832
Biobank	rs786204832
1000 genomes	rs786204832
hgdp	rs786204832
ensembl	rs786204832
geneview	rs786204832
scholar	rs786204832
google	rs786204832
pharmgkb	rs786204832
gwascentral	rs786204832
openSNP	rs786204832
23andMe	rs786204832
SNPshot	rs786204832
SNPdbe	rs786204832
MSV3d	rs786204832
GWAS Ctlg	rs786204832

Max Magnitude

0

ClinVar
Risk	rs786204832(A;A)
Alt	rs786204832(A;A)
Reference	Rs786204832(G;G)
Significance	Pathogenic
Disease	Anhidrosis
Variation	info
Gene	ITPR2
CLNDBN	Anhidrosis, isolated, with normal sweat glands
Reversed	1
HGVS	NC_000012.11:g.26553099C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169736.4,