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rs137853086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853086(C;T)
Make rs137853086(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position165770217
GeneGALNT3
is asnp
is mentioned by
dbSNPrs137853086
ebirs137853086
HLIrs137853086
Exacrs137853086
Varsomers137853086
Maprs137853086
PheGenIrs137853086
hapmaprs137853086
1000 genomesrs137853086
hgdprs137853086
ensemblrs137853086
gopubmedrs137853086
geneviewrs137853086
scholarrs137853086
googlers137853086
pharmgkbrs137853086
gwascentralrs137853086
openSNPrs137853086
23andMers137853086
23andMe allrs137853086
SNP Nexus

SNPshotrs137853086
SNPdbers137853086
MSV3drs137853086
GWAS Ctlgrs137853086
GMAF0.0004591
Max Magnitude0
OMIM601756
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853086(T;T)
Alt rs137853086(T;T)
Reference rs137853086(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000002.11:g.166626727G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008235.4,