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rs397514498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514498(C;T)
Make rs397514498(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position46846103
GeneAP2S1
is asnp
is mentioned by
dbSNPrs397514498
ebirs397514498
HLIrs397514498
Exacrs397514498
Varsomers397514498
Maprs397514498
PheGenIrs397514498
hapmaprs397514498
1000 genomesrs397514498
hgdprs397514498
ensemblrs397514498
gopubmedrs397514498
geneviewrs397514498
scholarrs397514498
googlers397514498
pharmgkbrs397514498
gwascentralrs397514498
openSNPrs397514498
23andMers397514498
23andMe allrs397514498
SNP Nexus

SNPshotrs397514498
SNPdbers397514498
MSV3drs397514498
GWAS Ctlgrs397514498
Max Magnitude0
ClinVar
Risk rs397514498(T;T)
Alt rs397514498(T;T)
Reference rs397514498(C;C)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene AP2S1
CLNDBN Hypocalciuric hypercalcemia, familial, type III
Reversed 1
HGVS NC_000019.9:g.47349360G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032619.3,