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rs137853091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853091(A;A)
Make rs137853091(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position165758862
GeneGALNT3
is asnp
is mentioned by
dbSNPrs137853091
ebirs137853091
HLIrs137853091
Exacrs137853091
Varsomers137853091
Maprs137853091
PheGenIrs137853091
hapmaprs137853091
1000 genomesrs137853091
hgdprs137853091
ensemblrs137853091
gopubmedrs137853091
geneviewrs137853091
scholarrs137853091
googlers137853091
pharmgkbrs137853091
gwascentralrs137853091
openSNPrs137853091
23andMers137853091
23andMe allrs137853091
SNP Nexus

SNPshotrs137853091
SNPdbers137853091
MSV3drs137853091
GWAS Ctlgrs137853091
Max Magnitude0
OMIM601756
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853091(A;A)
Alt rs137853091(A;A)
Reference rs137853091(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000002.11:g.166615372G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008239.4,