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

rs193922422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTTT;GTTT) 0 common in clinvar
(TGTT;TGTT) 0 common in clinvar
Make rs193922422(-;-)
Make rs193922422(-;GTTT)
ReferenceGRCh38 38.1/141
Chromosome3
Position122275946
GeneCASR
is asnp
is mentioned by
dbSNPrs193922422
ebirs193922422
HLIrs193922422
Exacrs193922422
Varsomers193922422
Maprs193922422
PheGenIrs193922422
hapmaprs193922422
1000 genomesrs193922422
hgdprs193922422
ensemblrs193922422
gopubmedrs193922422
geneviewrs193922422
scholarrs193922422
googlers193922422
pharmgkbrs193922422
gwascentralrs193922422
openSNPrs193922422
23andMers193922422
23andMe allrs193922422
SNP Nexus

SNPshotrs193922422
SNPdbers193922422
MSV3drs193922422
GWAS Ctlgrs193922422
Max Magnitude0
ClinVar
Risk rs193922422(;)
Alt rs193922422(;)
Reference rs193922422(TGTT;TGTT)
Significance Probable-Pathogenic
Disease Familial hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN Familial hypocalciuric hypercalcemia
Reversed 0
HGVS NC_000003.11:g.121994793_121994796delGTTT
CLNSRC ClinVar LabCorp
CLNACC RCV000029429.1,