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rs104894271

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894271(C;C)
Make rs104894271(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position13492804
GenePTH
is asnp
is mentioned by
dbSNPrs104894271
ebirs104894271
HLIrs104894271
Exacrs104894271
Varsomers104894271
Maprs104894271
PheGenIrs104894271
hapmaprs104894271
1000 genomesrs104894271
hgdprs104894271
ensemblrs104894271
gopubmedrs104894271
geneviewrs104894271
scholarrs104894271
googlers104894271
pharmgkbrs104894271
gwascentralrs104894271
openSNPrs104894271
23andMers104894271
23andMe allrs104894271
SNP Nexus

SNPshotrs104894271
SNPdbers104894271
MSV3drs104894271
GWAS Ctlgrs104894271
Max Magnitude0
OMIM168450
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894271(C;C)
Alt rs104894271(C;C)
Reference rs104894271(T;T)
Significance Pathogenic
Disease Hypoparathyroidism familial isolated
Variation info
Gene PTH
CLNDBN Hypoparathyroidism familial isolated
Reversed 1
HGVS NC_000011.9:g.13514351A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014764.25,