rs121912612

Orientation

minus

Stabilized

minus

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

Make rs121912612(A;G)

Make rs121912612(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

165069101

Gene

SI

is a	snp
is	mentioned by
dbSNP	rs121912612
dbSNP (classic)	rs121912612
ClinGen	rs121912612
ebi	rs121912612
HLI	rs121912612
Exac	rs121912612
Gnomad	rs121912612
Varsome	rs121912612
LitVar	rs121912612
Map	rs121912612
PheGenI	rs121912612
Biobank	rs121912612
1000 genomes	rs121912612
hgdp	rs121912612
ensembl	rs121912612
geneview	rs121912612
scholar	rs121912612
google	rs121912612
pharmgkb	rs121912612
gwascentral	rs121912612
openSNP	rs121912612
23andMe	rs121912612
SNPshot	rs121912612
SNPdbe	rs121912612
MSV3d	rs121912612
GWAS Ctlg	rs121912612

Max Magnitude

0

OMIM	609845
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912612(G;G)
Alt	rs121912612(G;G)
Reference	Rs121912612(A;A)
Significance	Pathogenic
Disease	Sucrase-isomaltase deficiency
Variation	info
Gene	SI
CLNDBN	Sucrase-isomaltase deficiency
Reversed	1
HGVS	NC_000003.11:g.164786889T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001479.4,