Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893704(C;C)
Make rs104893704(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122284595
GeneCASR
is asnp
is mentioned by
dbSNPrs104893704
dbSNP (classic)rs104893704
ClinGenrs104893704
ebirs104893704
HLIrs104893704
Exacrs104893704
Gnomadrs104893704
Varsomers104893704
LitVarrs104893704
Maprs104893704
PheGenIrs104893704
Biobankrs104893704
1000 genomesrs104893704
hgdprs104893704
ensemblrs104893704
geneviewrs104893704
scholarrs104893704
googlers104893704
pharmgkbrs104893704
gwascentralrs104893704
openSNPrs104893704
23andMers104893704
SNPshotrs104893704
SNPdbers104893704
MSV3drs104893704
GWAS Ctlgrs104893704
Max Magnitude0
OMIM601199
Desc
Variant0031
Relatedalso
ClinVar
Risk rs104893704(C;C)
Alt rs104893704(C;C)
Reference Rs104893704(T;T)
Significance Pathogenic
Disease Hypercalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Hypercalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.122003442T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008842.3,