rs2243639

Orientation

plus

Stabilized

plus

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

Make rs2243639(C;C)

Make rs2243639(C;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

79941966

Gene

SFTPD

is a	snp
is	mentioned by
dbSNP	rs2243639
dbSNP (classic)	rs2243639
ClinGen	rs2243639
ebi	rs2243639
HLI	rs2243639
Exac	rs2243639
Gnomad	rs2243639
Varsome	rs2243639
LitVar	rs2243639
Map	rs2243639
PheGenI	rs2243639
Biobank	rs2243639
1000 genomes	rs2243639
hgdp	rs2243639
ensembl	rs2243639
geneview	rs2243639
scholar	rs2243639
google	rs2243639
pharmgkb	rs2243639
gwascentral	rs2243639
openSNP	rs2243639
23andMe	rs2243639
SNPshot	rs2243639
SNPdbe	rs2243639
MSV3d	rs2243639
GWAS Ctlg	rs2243639

GMAF

0.258

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 19340882] Genetic variants in surfactant, pulmonary-associated protein D (SFTPD) and Japanese susceptibility to ulcerative colitis

[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

[PMID 16846490] Lemierre's syndrome and genetic polymorphisms: a case report.

[PMID 21790524] Genetic variants and monoallelic expression of surfactant protein-D in inflammatory bowel disease.

[PMID 25015576] Surfactant Protein-D-Encoding Gene Variant Polymorphisms Are Linked to Respiratory Outcome in Premature Infants

ClinVar
Risk	rs2243639(C;C)
Alt	rs2243639(C;C)
Reference	Rs2243639(T;T)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	SFTPD
CLNDBN	not specified
Reversed	0
HGVS	NC_000010.10:g.81701722T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000151861.2,