rs121918559

Orientation

plus

Stabilized

plus

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

Make rs121918559(A;A)

Make rs121918559(A;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

22163458

Gene	BMP1, SFTPC

is a	snp
is	mentioned by
dbSNP	rs121918559
dbSNP (classic)	rs121918559
ClinGen	rs121918559
ebi	rs121918559
HLI	rs121918559
Exac	rs121918559
Gnomad	rs121918559
Varsome	rs121918559
LitVar	rs121918559
Map	rs121918559
PheGenI	rs121918559
Biobank	rs121918559
1000 genomes	rs121918559
hgdp	rs121918559
ensembl	rs121918559
geneview	rs121918559
scholar	rs121918559
google	rs121918559
pharmgkb	rs121918559
gwascentral	rs121918559
openSNP	rs121918559
23andMe	rs121918559
SNPshot	rs121918559
SNPdbe	rs121918559
MSV3d	rs121918559
GWAS Ctlg	rs121918559

Max Magnitude

0

OMIM	178620
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918559(A;A)
Alt	rs121918559(A;A)
Reference	Rs121918559(C;C)
Significance	Pathogenic
Disease	Surfactant metabolism dysfunction
Variation	info
Gene	SFTPC BMP1
CLNDBN	Surfactant metabolism dysfunction, pulmonary, 2
Reversed	0
HGVS	NC_000008.10:g.22020971C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014099.25,