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rs745655924

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs745655924(C;T)
Make rs745655924(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165754931
GeneGALNT3
is asnp
is mentioned by
dbSNPrs745655924
ebirs745655924
HLIrs745655924
Exacrs745655924
Varsomers745655924
Maprs745655924
PheGenIrs745655924
hapmaprs745655924
1000 genomesrs745655924
hgdprs745655924
ensemblrs745655924
gopubmedrs745655924
geneviewrs745655924
scholarrs745655924
googlers745655924
pharmgkbrs745655924
gwascentralrs745655924
openSNPrs745655924
23andMers745655924
23andMe allrs745655924
SNP Nexus

SNPshotrs745655924
SNPdbers745655924
MSV3drs745655924
GWAS Ctlgrs745655924
Max Magnitude0
ClinVar
Risk rs745655924(T;T)
Alt rs745655924(T;T)
Reference rs745655924(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 0
HGVS NC_000002.11:g.166611441C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008234.3,