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rs375879489

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375879489(C;T)
Make rs375879489(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165754927
GeneGALNT3
is asnp
is mentioned by
dbSNPrs375879489
ebirs375879489
HLIrs375879489
Exacrs375879489
Varsomers375879489
Maprs375879489
PheGenIrs375879489
hapmaprs375879489
1000 genomesrs375879489
hgdprs375879489
ensemblrs375879489
gopubmedrs375879489
geneviewrs375879489
scholarrs375879489
googlers375879489
pharmgkbrs375879489
gwascentralrs375879489
openSNPrs375879489
23andMers375879489
23andMe allrs375879489
SNP Nexus

SNPshotrs375879489
SNPdbers375879489
MSV3drs375879489
GWAS Ctlgrs375879489
Max Magnitude0
ClinVar
Risk rs375879489(G,T;G,T)
Alt rs375879489(G,T;G,T)
Reference rs375879489(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 0
HGVS NC_000002.11:g.166611437C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008236.4,