rs28936691

Orientation

minus

Stabilized

minus

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

Make rs28936691(A;C)

Make rs28936691(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2278016

Gene

ABCA3

is a	snp
is	mentioned by
dbSNP	rs28936691
dbSNP (classic)	rs28936691
ClinGen	rs28936691
ebi	rs28936691
HLI	rs28936691
Exac	rs28936691
Gnomad	rs28936691
Varsome	rs28936691
LitVar	rs28936691
Map	rs28936691
PheGenI	rs28936691
Biobank	rs28936691
1000 genomes	rs28936691
hgdp	rs28936691
ensembl	rs28936691
geneview	rs28936691
scholar	rs28936691
google	rs28936691
pharmgkb	rs28936691
gwascentral	rs28936691
openSNP	rs28936691
23andMe	rs28936691
SNPshot	rs28936691
SNPdbe	rs28936691
MSV3d	rs28936691
GWAS Ctlg	rs28936691

Max Magnitude

0

OMIM	601615
Desc	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
Variant	0004
Related	also

ClinVar
Risk	rs28936691(C;C)
Alt	rs28936691(C;C)
Reference	Rs28936691(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.2328017T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008478.3,