rs121909247

Orientation

minus

Stabilized

minus

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

Make rs121909247(C;C)

Make rs121909247(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1790800

Gene

IGFALS

is a	snp
is	mentioned by
dbSNP	rs121909247
dbSNP (classic)	rs121909247
ClinGen	rs121909247
ebi	rs121909247
HLI	rs121909247
Exac	rs121909247
Gnomad	rs121909247
Varsome	rs121909247
LitVar	rs121909247
Map	rs121909247
PheGenI	rs121909247
Biobank	rs121909247
1000 genomes	rs121909247
hgdp	rs121909247
ensembl	rs121909247
geneview	rs121909247
scholar	rs121909247
google	rs121909247
pharmgkb	rs121909247
gwascentral	rs121909247
openSNP	rs121909247
23andMe	rs121909247
SNPshot	rs121909247
SNPdbe	rs121909247
MSV3d	rs121909247
GWAS Ctlg	rs121909247

Max Magnitude

0

OMIM	601489
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121909247(C;C)
Alt	rs121909247(C;C)
Reference	Rs121909247(T;T)
Significance	Pathogenic
Disease	Acid-labile subunit deficiency
Variation	info
Gene	IGFALS
CLNDBN	Acid-labile subunit deficiency
Reversed	1
HGVS	NC_000016.9:g.1840801A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008601.4,