rs606231171

Orientation

minus

Stabilized

minus

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

Make rs606231171(-;AGCCTGCGC)

Make rs606231171(AGCCTGCGC;AGCCTGCGC)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

1791826

Gene

IGFALS

is a	snp
is	mentioned by
dbSNP	rs606231171
dbSNP (classic)	rs606231171
ClinGen	rs606231171
ebi	rs606231171
HLI	rs606231171
Exac	rs606231171
Gnomad	rs606231171
Varsome	rs606231171
LitVar	rs606231171
Map	rs606231171
PheGenI	rs606231171
Biobank	rs606231171
1000 genomes	rs606231171
hgdp	rs606231171
ensembl	rs606231171
geneview	rs606231171
scholar	rs606231171
google	rs606231171
pharmgkb	rs606231171
gwascentral	rs606231171
openSNP	rs606231171
23andMe	rs606231171
SNPshot	rs606231171
SNPdbe	rs606231171
MSV3d	rs606231171
GWAS Ctlg	rs606231171

Max Magnitude

0

ClinVar
Risk	rs606231171(AGCCTGCGC;AGCCTGCGC)
Alt	rs606231171(AGCCTGCGC;AGCCTGCGC)
Reference	Rs606231171(-;-)
Significance	Pathogenic
Disease	Acid-labile subunit deficiency
Variation	info
Gene	IGFALS
CLNDBN	Acid-labile subunit deficiency
Reversed	1
HGVS	NC_000016.9:g.1841828_1841836dupGCGCAGGCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008602.4,