rs121912611

Orientation

minus

Stabilized

minus

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

Make rs121912611(A;C)

Make rs121912611(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

165019732

Gene

SI

is a	snp
is	mentioned by
dbSNP	rs121912611
dbSNP (classic)	rs121912611
ClinGen	rs121912611
ebi	rs121912611
HLI	rs121912611
Exac	rs121912611
Gnomad	rs121912611
Varsome	rs121912611
LitVar	rs121912611
Map	rs121912611
PheGenI	rs121912611
Biobank	rs121912611
1000 genomes	rs121912611
hgdp	rs121912611
ensembl	rs121912611
geneview	rs121912611
scholar	rs121912611
google	rs121912611
pharmgkb	rs121912611
gwascentral	rs121912611
openSNP	rs121912611
23andMe	rs121912611
SNPshot	rs121912611
SNPdbe	rs121912611
MSV3d	rs121912611
GWAS Ctlg	rs121912611

Max Magnitude

0

OMIM	609845
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912611(C;C)
Alt	rs121912611(C;C)
Reference	Rs121912611(A;A)
Significance	Pathogenic
Disease	Sucrase-isomaltase deficiency
Variation	info
Gene	SI
CLNDBN	Sucrase-isomaltase deficiency
Reversed	1
HGVS	NC_000003.11:g.164737520T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001477.3,