rs121909183

Orientation

minus

Stabilized

minus

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

Make rs121909183(C;C)

Make rs121909183(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2278348

Gene

ABCA3

is a	snp
is	mentioned by
dbSNP	rs121909183
dbSNP (classic)	rs121909183
ClinGen	rs121909183
ebi	rs121909183
HLI	rs121909183
Exac	rs121909183
Gnomad	rs121909183
Varsome	rs121909183
LitVar	rs121909183
Map	rs121909183
PheGenI	rs121909183
Biobank	rs121909183
1000 genomes	rs121909183
hgdp	rs121909183
ensembl	rs121909183
geneview	rs121909183
scholar	rs121909183
google	rs121909183
pharmgkb	rs121909183
gwascentral	rs121909183
openSNP	rs121909183
23andMe	rs121909183
SNPshot	rs121909183
SNPdbe	rs121909183
MSV3d	rs121909183
GWAS Ctlg	rs121909183

Max Magnitude

0

OMIM	601615
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909183(C;C)
Alt	rs121909183(C;C)
Reference	Rs121909183(T;T)
Significance	Pathogenic
Disease	Surfactant metabolism dysfunction
Variation	info
Gene	ABCA3
CLNDBN	Surfactant metabolism dysfunction, pulmonary, 3
Reversed	1
HGVS	NC_000016.9:g.2328349A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008477.3,