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rs137853088

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853088(G;G)
Make rs137853088(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165759443
GeneGALNT3
is asnp
is mentioned by
dbSNPrs137853088
ebirs137853088
HLIrs137853088
Exacrs137853088
Varsomers137853088
Maprs137853088
PheGenIrs137853088
hapmaprs137853088
1000 genomesrs137853088
hgdprs137853088
ensemblrs137853088
gopubmedrs137853088
geneviewrs137853088
scholarrs137853088
googlers137853088
pharmgkbrs137853088
gwascentralrs137853088
openSNPrs137853088
23andMers137853088
23andMe allrs137853088
SNP Nexus

SNPshotrs137853088
SNPdbers137853088
MSV3drs137853088
GWAS Ctlgrs137853088
Max Magnitude0
OMIM601756
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853088(G;G)
Alt rs137853088(G;G)
Reference rs137853088(T;T)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000002.11:g.166615953A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008240.2,