rs397514499

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397514499(G;T)

Make rs397514499(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46846102

Gene

AP2S1

is a	snp
is	mentioned by
dbSNP	rs397514499
dbSNP (classic)	rs397514499
ClinGen	rs397514499
ebi	rs397514499
HLI	rs397514499
Exac	rs397514499
Gnomad	rs397514499
Varsome	rs397514499
LitVar	rs397514499
Map	rs397514499
PheGenI	rs397514499
Biobank	rs397514499
1000 genomes	rs397514499
hgdp	rs397514499
ensembl	rs397514499
geneview	rs397514499
scholar	rs397514499
google	rs397514499
pharmgkb	rs397514499
gwascentral	rs397514499
openSNP	rs397514499
23andMe	rs397514499
SNPshot	rs397514499
SNPdbe	rs397514499
MSV3d	rs397514499
GWAS Ctlg	rs397514499

Max Magnitude

0

ClinVar
Risk	rs397514499(A;A) rs397514499(T;T)
Alt	rs397514499(A;A) rs397514499(T;T)
Reference	Rs397514499(G;G)
Significance	Pathogenic
Disease	Hypocalciuric hypercalcemia
Variation	info
Gene	AP2S1
CLNDBN	Hypocalciuric hypercalcemia, familial, type III
Reversed	1
HGVS	NC_000019.9:g.47349359C>A; NC_000019.9:g.47349359C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032620.2, RCV000032621.2,