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rs137853090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853090(A;A)
Make rs137853090(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position165761928
GeneGALNT3
is asnp
is mentioned by
dbSNPrs137853090
ebirs137853090
HLIrs137853090
Exacrs137853090
Varsomers137853090
Maprs137853090
PheGenIrs137853090
hapmaprs137853090
1000 genomesrs137853090
hgdprs137853090
ensemblrs137853090
gopubmedrs137853090
geneviewrs137853090
scholarrs137853090
googlers137853090
pharmgkbrs137853090
gwascentralrs137853090
openSNPrs137853090
23andMers137853090
23andMe allrs137853090
SNP Nexus

SNPshotrs137853090
SNPdbers137853090
MSV3drs137853090
GWAS Ctlgrs137853090
Max Magnitude0
OMIM601756
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853090(A,T;A,T)
Alt rs137853090(A,T;A,T)
Reference rs137853090(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000002.11:g.166618438G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008242.3,