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rs761396172

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs761396172(C;C)
Make rs761396172(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165765058
GeneGALNT3
is asnp
is mentioned by
dbSNPrs761396172
ebirs761396172
HLIrs761396172
Exacrs761396172
Varsomers761396172
Maprs761396172
PheGenIrs761396172
hapmaprs761396172
1000 genomesrs761396172
hgdprs761396172
ensemblrs761396172
gopubmedrs761396172
geneviewrs761396172
scholarrs761396172
googlers761396172
pharmgkbrs761396172
gwascentralrs761396172
openSNPrs761396172
23andMers761396172
23andMe allrs761396172
SNP Nexus

SNPshotrs761396172
SNPdbers761396172
MSV3drs761396172
GWAS Ctlgrs761396172
Max Magnitude0
ClinVar
Risk rs761396172(C;C)
Alt rs761396172(C;C)
Reference rs761396172(T;T)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 0
HGVS NC_000002.11:g.166621568T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008237.4,