rs267607049

Orientation

minus

Stabilized

minus

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

Make rs267607049(C;C)

Make rs267607049(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

165060026

Gene

SI

is a	snp
is	mentioned by
dbSNP	rs267607049
dbSNP (classic)	rs267607049
ClinGen	rs267607049
ebi	rs267607049
HLI	rs267607049
Exac	rs267607049
Gnomad	rs267607049
Varsome	rs267607049
LitVar	rs267607049
Map	rs267607049
PheGenI	rs267607049
Biobank	rs267607049
1000 genomes	rs267607049
hgdp	rs267607049
ensembl	rs267607049
geneview	rs267607049
scholar	rs267607049
google	rs267607049
pharmgkb	rs267607049
gwascentral	rs267607049
openSNP	rs267607049
23andMe	rs267607049
SNPshot	rs267607049
SNPdbe	rs267607049
MSV3d	rs267607049
GWAS Ctlg	rs267607049

Max Magnitude

0

ClinVar
Risk	rs267607049(C;C)
Alt	rs267607049(C;C)
Reference	Rs267607049(T;T)
Significance	Pathogenic
Disease	Sucrase-isomaltase deficiency
Variation	info
Gene	SI
CLNDBN	Sucrase-isomaltase deficiency
Reversed	1
HGVS	NC_000003.11:g.164777814A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001478.4,