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rs104894272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894272(C;C)
Make rs104894272(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position13492789
GenePTH
is asnp
is mentioned by
dbSNPrs104894272
ebirs104894272
HLIrs104894272
Exacrs104894272
Varsomers104894272
Maprs104894272
PheGenIrs104894272
hapmaprs104894272
1000 genomesrs104894272
hgdprs104894272
ensemblrs104894272
gopubmedrs104894272
geneviewrs104894272
scholarrs104894272
googlers104894272
pharmgkbrs104894272
gwascentralrs104894272
openSNPrs104894272
23andMers104894272
23andMe allrs104894272
SNP Nexus

SNPshotrs104894272
SNPdbers104894272
MSV3drs104894272
GWAS Ctlgrs104894272
Max Magnitude0
OMIM168450
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894272(C;C)
Alt rs104894272(C;C)
Reference rs104894272(T;T)
Significance Pathogenic
Disease Hypoparathyroidism familial isolated
Variation info
Gene PTH
CLNDBN Hypoparathyroidism familial isolated
Reversed 1
HGVS NC_000011.9:g.13514336A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014766.19,