rs121909181

Orientation

minus

Stabilized

minus

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

Make rs121909181(A;A)

Make rs121909181(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2285499

Gene

ABCA3

is a	snp
is	mentioned by
dbSNP	rs121909181
dbSNP (classic)	rs121909181
ClinGen	rs121909181
ebi	rs121909181
HLI	rs121909181
Exac	rs121909181
Gnomad	rs121909181
Varsome	rs121909181
LitVar	rs121909181
Map	rs121909181
PheGenI	rs121909181
Biobank	rs121909181
1000 genomes	rs121909181
hgdp	rs121909181
ensembl	rs121909181
geneview	rs121909181
scholar	rs121909181
google	rs121909181
pharmgkb	rs121909181
gwascentral	rs121909181
openSNP	rs121909181
23andMe	rs121909181
SNPshot	rs121909181
SNPdbe	rs121909181
MSV3d	rs121909181
GWAS Ctlg	rs121909181

Max Magnitude

0

OMIM	601615
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909181(A;A)
Alt	rs121909181(A;A)
Reference	Rs121909181(G;G)
Significance	Pathogenic
Disease	Surfactant metabolism dysfunction
Variation	info
Gene	ABCA3
CLNDBN	Surfactant metabolism dysfunction, pulmonary, 3
Reversed	1
HGVS	NC_000016.9:g.2335500C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008475.3,