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rs104893701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893701(G;G)
Make rs104893701(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284317
GeneCASR
is asnp
is mentioned by
dbSNPrs104893701
ebirs104893701
HLIrs104893701
Exacrs104893701
Varsomers104893701
Maprs104893701
PheGenIrs104893701
hapmaprs104893701
1000 genomesrs104893701
hgdprs104893701
ensemblrs104893701
gopubmedrs104893701
geneviewrs104893701
scholarrs104893701
googlers104893701
pharmgkbrs104893701
gwascentralrs104893701
openSNPrs104893701
23andMers104893701
23andMe allrs104893701
SNP Nexus

SNPshotrs104893701
SNPdbers104893701
MSV3drs104893701
GWAS Ctlgrs104893701
Max Magnitude0
OMIM601199
Desc
Variant0027
Relatedalso
ClinVar
Risk rs104893701(G;G)
Alt rs104893701(G;G)
Reference rs104893701(T;T)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.122003164T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008838.5,