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rs121909265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909265(G;T)
Make rs121909265(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122254374
GeneCASR
is asnp
is mentioned by
dbSNPrs121909265
dbSNP (classic)rs121909265
ClinGenrs121909265
ebirs121909265
HLIrs121909265
Exacrs121909265
Gnomadrs121909265
Varsomers121909265
LitVarrs121909265
Maprs121909265
PheGenIrs121909265
Biobankrs121909265
1000 genomesrs121909265
hgdprs121909265
ensemblrs121909265
geneviewrs121909265
scholarrs121909265
googlers121909265
pharmgkbrs121909265
gwascentralrs121909265
openSNPrs121909265
23andMers121909265
SNPshotrs121909265
SNPdbers121909265
MSV3drs121909265
GWAS Ctlgrs121909265
Max Magnitude0
OMIM601199
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121909265(T;T)
Alt rs121909265(T;T)
Reference Rs121909265(G;G)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121973221G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008836.6,