rs34957318

Orientation

minus

Stabilized

minus

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

Make rs34957318(C;T)

Make rs34957318(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

22163947

Gene	BMP1, SFTPC

is a	snp
is	mentioned by
dbSNP	rs34957318
dbSNP (classic)	rs34957318
ClinGen	rs34957318
ebi	rs34957318
HLI	rs34957318
Exac	rs34957318
Gnomad	rs34957318
Varsome	rs34957318
LitVar	rs34957318
Map	rs34957318
PheGenI	rs34957318
Biobank	rs34957318
1000 genomes	rs34957318
hgdp	rs34957318
ensembl	rs34957318
geneview	rs34957318
scholar	rs34957318
google	rs34957318
pharmgkb	rs34957318
gwascentral	rs34957318
openSNP	rs34957318
23andMe	rs34957318
SNPshot	rs34957318
SNPdbe	rs34957318
MSV3d	rs34957318
GWAS Ctlg	rs34957318

GMAF

0.003214

Max Magnitude

0

OMIM	178620
Desc
Variant	0003
Related	also

ClinVar
Risk	rs34957318(T;T)
Alt	rs34957318(T;T)
Reference	Rs34957318(C;C)
Significance	Pathogenic
Disease	Surfactant metabolism dysfunction Idiopathic fibrosing alveolitis Pulmonary Surfactant Metabolism Dysfunction
Variation	info
Gene	SFTPC BMP1
CLNDBN	Surfactant metabolism dysfunction, pulmonary, 2 Idiopathic fibrosing alveolitis, chronic form Pulmonary Surfactant Metabolism Dysfunction, Dominant
Reversed	1
HGVS	NC_000008.10:g.22021460G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014096.27, RCV000261074.1, RCV000360210.1,