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rs201633414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201633414(C;T)
Make rs201633414(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position122254262
GeneCASR
is asnp
is mentioned by
dbSNPrs201633414
dbSNP (old)rs201633414
ClinGenrs201633414
ebirs201633414
HLIrs201633414
Exacrs201633414
Gnomadrs201633414
Varsomers201633414
Maprs201633414
PheGenIrs201633414
Biobankrs201633414
1000 genomesrs201633414
hgdprs201633414
ensemblrs201633414
gopubmedrs201633414
geneviewrs201633414
scholarrs201633414
googlers201633414
pharmgkbrs201633414
gwascentralrs201633414
openSNPrs201633414
23andMers201633414
23andMe allrs201633414
SNPshotrs201633414
SNPdbers201633414
MSV3drs201633414
GWAS Ctlgrs201633414
Max Magnitude0
ClinVar
Risk rs201633414(T;T)
Alt rs201633414(T;T)
Reference Rs201633414(C;C)
Significance Pathogenic
Disease not provided Hypocalciuric hypercalcemia
Variation info
Gene CASR
CLNDBN not provided Hypocalciuric hypercalcemia, familial, type 1
Reversed 0
HGVS NC_000003.11:g.121973109C>T
CLNSRC
CLNACC RCV000413560.1, RCV000457695.1,