rs121918560

Orientation

plus

Stabilized

plus

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

Make rs121918560(C;C)

Make rs121918560(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

22164028

Gene	BMP1, SFTPC

is a	snp
is	mentioned by
dbSNP	rs121918560
dbSNP (classic)	rs121918560
ClinGen	rs121918560
ebi	rs121918560
HLI	rs121918560
Exac	rs121918560
Gnomad	rs121918560
Varsome	rs121918560
LitVar	rs121918560
Map	rs121918560
PheGenI	rs121918560
Biobank	rs121918560
1000 genomes	rs121918560
hgdp	rs121918560
ensembl	rs121918560
geneview	rs121918560
scholar	rs121918560
google	rs121918560
pharmgkb	rs121918560
gwascentral	rs121918560
openSNP	rs121918560
23andMe	rs121918560
SNPshot	rs121918560
SNPdbe	rs121918560
MSV3d	rs121918560
GWAS Ctlg	rs121918560

Max Magnitude

0

OMIM	178620
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918560(C;C)
Alt	rs121918560(C;C)
Reference	Rs121918560(T;T)
Significance	Pathogenic
Disease	Surfactant metabolism dysfunction
Variation	info
Gene	SFTPC BMP1
CLNDBN	Surfactant metabolism dysfunction, pulmonary, 2
Reversed	0
HGVS	NC_000008.10:g.22021541T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014101.26,