rs121912615

Orientation

minus

Stabilized

minus

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

Make rs121912615(G;G)

Make rs121912615(G;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

165046998

Gene

SI

is a	snp
is	mentioned by
dbSNP	rs121912615
dbSNP (classic)	rs121912615
ClinGen	rs121912615
ebi	rs121912615
HLI	rs121912615
Exac	rs121912615
Gnomad	rs121912615
Varsome	rs121912615
LitVar	rs121912615
Map	rs121912615
PheGenI	rs121912615
Biobank	rs121912615
1000 genomes	rs121912615
hgdp	rs121912615
ensembl	rs121912615
geneview	rs121912615
scholar	rs121912615
google	rs121912615
pharmgkb	rs121912615
gwascentral	rs121912615
openSNP	rs121912615
23andMe	rs121912615
SNPshot	rs121912615
SNPdbe	rs121912615
MSV3d	rs121912615
GWAS Ctlg	rs121912615

GMAF

0.0004591

Max Magnitude

0

OMIM	609845
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912615(G;G)
Alt	rs121912615(G;G)
Reference	Rs121912615(T;T)
Significance	Pathogenic
Disease	Sucrase-isomaltase deficiency not specified not provided
Variation	info
Gene	SI
CLNDBN	Sucrase-isomaltase deficiency not specified not provided
Reversed	1
HGVS	NC_000003.11:g.164764786A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001483.6, RCV000322061.1, RCV000481721.1,