rs121912614

Orientation

minus

Stabilized

minus

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

Make rs121912614(A;A)

Make rs121912614(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

165017621

Gene

SI

is a	snp
is	mentioned by
dbSNP	rs121912614
dbSNP (classic)	rs121912614
ClinGen	rs121912614
ebi	rs121912614
HLI	rs121912614
Exac	rs121912614
Gnomad	rs121912614
Varsome	rs121912614
LitVar	rs121912614
Map	rs121912614
PheGenI	rs121912614
Biobank	rs121912614
1000 genomes	rs121912614
hgdp	rs121912614
ensembl	rs121912614
geneview	rs121912614
scholar	rs121912614
google	rs121912614
pharmgkb	rs121912614
gwascentral	rs121912614
openSNP	rs121912614
23andMe	rs121912614
SNPshot	rs121912614
SNPdbe	rs121912614
MSV3d	rs121912614
GWAS Ctlg	rs121912614

Max Magnitude

0

OMIM	609845
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912614(A;A)
Alt	rs121912614(A;A)
Reference	Rs121912614(G;G)
Significance	Pathogenic
Disease	Sucrase-isomaltase deficiency
Variation	info
Gene	SI
CLNDBN	Sucrase-isomaltase deficiency
Reversed	1
HGVS	NC_000003.11:g.164735409C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001481.3,