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rs760830864

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760830864(A;A)
Make rs760830864(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165754626
GeneGALNT3
is asnp
is mentioned by
dbSNPrs760830864
ebirs760830864
HLIrs760830864
Exacrs760830864
Varsomers760830864
Maprs760830864
PheGenIrs760830864
hapmaprs760830864
1000 genomesrs760830864
hgdprs760830864
ensemblrs760830864
gopubmedrs760830864
geneviewrs760830864
scholarrs760830864
googlers760830864
pharmgkbrs760830864
gwascentralrs760830864
openSNPrs760830864
23andMers760830864
23andMe allrs760830864
SNP Nexus

SNPshotrs760830864
SNPdbers760830864
MSV3drs760830864
GWAS Ctlgrs760830864
Max Magnitude0
ClinVar
Risk rs760830864(A;A)
Alt rs760830864(A;A)
Reference rs760830864(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 0
HGVS NC_000002.11:g.166611136C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008244.5,