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rs137853089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853089(C;T)
Make rs137853089(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165755015
GeneGALNT3
is asnp
is mentioned by
dbSNPrs137853089
ebirs137853089
HLIrs137853089
Exacrs137853089
Varsomers137853089
Maprs137853089
PheGenIrs137853089
hapmaprs137853089
1000 genomesrs137853089
hgdprs137853089
ensemblrs137853089
gopubmedrs137853089
geneviewrs137853089
scholarrs137853089
googlers137853089
pharmgkbrs137853089
gwascentralrs137853089
openSNPrs137853089
23andMers137853089
23andMe allrs137853089
SNP Nexus

SNPshotrs137853089
SNPdbers137853089
MSV3drs137853089
GWAS Ctlgrs137853089
Max Magnitude0
OMIM601756
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853089(T;T)
Alt rs137853089(T;T)
Reference rs137853089(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000002.11:g.166611525G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008241.3,