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rs193922442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922442(-;-)
Make rs193922442(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position122261589
GeneCASR
is asnp
is mentioned by
dbSNPrs193922442
ebirs193922442
HLIrs193922442
Exacrs193922442
Varsomers193922442
Maprs193922442
PheGenIrs193922442
hapmaprs193922442
1000 genomesrs193922442
hgdprs193922442
ensemblrs193922442
gopubmedrs193922442
geneviewrs193922442
scholarrs193922442
googlers193922442
pharmgkbrs193922442
gwascentralrs193922442
openSNPrs193922442
23andMers193922442
23andMe allrs193922442
SNP Nexus

SNPshotrs193922442
SNPdbers193922442
MSV3drs193922442
GWAS Ctlgrs193922442
Max Magnitude0
ClinVar
Risk rs193922442(;)
Alt rs193922442(;)
Reference rs193922442(G;G)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121980436delG
CLNSRC ClinVar LabCorp
CLNACC RCV000029453.1,