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rs786204832

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204832(A;A)
Make rs786204832(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position26400166
GeneITPR2
is asnp
is mentioned by
dbSNPrs786204832
ebirs786204832
HLIrs786204832
Exacrs786204832
Varsomers786204832
Maprs786204832
PheGenIrs786204832
hapmaprs786204832
1000 genomesrs786204832
hgdprs786204832
ensemblrs786204832
gopubmedrs786204832
geneviewrs786204832
scholarrs786204832
googlers786204832
pharmgkbrs786204832
gwascentralrs786204832
openSNPrs786204832
23andMers786204832
23andMe allrs786204832
SNP Nexus

SNPshotrs786204832
SNPdbers786204832
MSV3drs786204832
GWAS Ctlgrs786204832
Max Magnitude0
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
CLNACC RCV000169736.4,