rs121909184

Orientation

minus

Stabilized

minus

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

Make rs121909184(A;G)

Make rs121909184(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2299442

Gene

ABCA3

is a	snp
is	mentioned by
dbSNP	rs121909184
dbSNP (classic)	rs121909184
ClinGen	rs121909184
ebi	rs121909184
HLI	rs121909184
Exac	rs121909184
Gnomad	rs121909184
Varsome	rs121909184
LitVar	rs121909184
Map	rs121909184
PheGenI	rs121909184
Biobank	rs121909184
1000 genomes	rs121909184
hgdp	rs121909184
ensembl	rs121909184
geneview	rs121909184
scholar	rs121909184
google	rs121909184
pharmgkb	rs121909184
gwascentral	rs121909184
openSNP	rs121909184
23andMe	rs121909184
SNPshot	rs121909184
SNPdbe	rs121909184
MSV3d	rs121909184
GWAS Ctlg	rs121909184

Max Magnitude

0

OMIM	601615
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121909184(G;G)
Alt	rs121909184(G;G)
Reference	Rs121909184(A;A)
Significance	Pathogenic
Disease	Surfactant metabolism dysfunction
Variation	info
Gene	ABCA3
CLNDBN	Surfactant metabolism dysfunction, pulmonary, 3
Reversed	1
HGVS	NC_000016.9:g.2349443T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008479.3,