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rs104893695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893695(A;A)
Make rs104893695(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position122257249
GeneCASR
is asnp
is mentioned by
dbSNPrs104893695
ebirs104893695
HLIrs104893695
Exacrs104893695
Varsomers104893695
Maprs104893695
PheGenIrs104893695
hapmaprs104893695
1000 genomesrs104893695
hgdprs104893695
ensemblrs104893695
gopubmedrs104893695
geneviewrs104893695
scholarrs104893695
googlers104893695
pharmgkbrs104893695
gwascentralrs104893695
openSNPrs104893695
23andMers104893695
23andMe allrs104893695
SNP Nexus

SNPshotrs104893695
SNPdbers104893695
MSV3drs104893695
GWAS Ctlgrs104893695
Max Magnitude0
OMIM601199
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893695(A;A)
Alt rs104893695(A;A)
Reference rs104893695(C;C)
Significance Pathogenic
Disease Hypocalcemia
Variation info
Gene CASR
CLNDBN Hypocalcemia, autosomal dominant 1
Reversed 0
HGVS NC_000003.11:g.121976096C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008825.4,