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rs201091657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201091657(A;A)
Make rs201091657(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position122261684
GeneCASR
is asnp
is mentioned by
dbSNPrs201091657
dbSNP (old)rs201091657
ClinGenrs201091657
ebirs201091657
HLIrs201091657
Exacrs201091657
Gnomadrs201091657
Varsomers201091657
Maprs201091657
PheGenIrs201091657
Biobankrs201091657
1000 genomesrs201091657
hgdprs201091657
ensemblrs201091657
gopubmedrs201091657
geneviewrs201091657
scholarrs201091657
googlers201091657
pharmgkbrs201091657
gwascentralrs201091657
openSNPrs201091657
23andMers201091657
23andMe allrs201091657
SNPshotrs201091657
SNPdbers201091657
MSV3drs201091657
GWAS Ctlgrs201091657
Max Magnitude0
ClinVar
Risk rs201091657(A;A)
Alt rs201091657(A;A)
Reference Rs201091657(G;G)
Significance Probable-Pathogenic
Disease Hypocalcemia Hypocalciuric hypercalcemia not provided
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1 Hypocalciuric hypercalcemia, familial, type 1 not provided
Reversed 0
HGVS NC_000003.11:g.121980531G>A; NC_000003.11:g.121980531G>T
CLNSRC
CLNACC RCV000472371.1, RCV000494358.1,