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rs137853087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853087(C;T)
Make rs137853087(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165749747
GeneGALNT3
is asnp
is mentioned by
dbSNPrs137853087
ebirs137853087
HLIrs137853087
Exacrs137853087
Varsomers137853087
Maprs137853087
PheGenIrs137853087
hapmaprs137853087
1000 genomesrs137853087
hgdprs137853087
ensemblrs137853087
gopubmedrs137853087
geneviewrs137853087
scholarrs137853087
googlers137853087
pharmgkbrs137853087
gwascentralrs137853087
openSNPrs137853087
23andMers137853087
23andMe allrs137853087
SNP Nexus

SNPshotrs137853087
SNPdbers137853087
MSV3drs137853087
GWAS Ctlgrs137853087
Max Magnitude0
OMIM601756
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853087(T;T)
Alt rs137853087(T;T)
Reference rs137853087(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000002.11:g.166606257G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008238.3,