rs12483377

plus

Geno	Mag	Summary
(A;A)	1	benign polymorphism; no significant effect
(A;G)	1	benign polymorphism
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

21

Position

45511195

Gene	COL18A1, SLC19A1

is a	snp
is	mentioned by
dbSNP	rs12483377
dbSNP (classic)	rs12483377
ClinGen	rs12483377
ebi	rs12483377
HLI	rs12483377
Exac	rs12483377
Gnomad	rs12483377
Varsome	rs12483377
LitVar	rs12483377
Map	rs12483377
PheGenI	rs12483377
Biobank	rs12483377
1000 genomes	rs12483377
hgdp	rs12483377
ensembl	rs12483377
geneview	rs12483377
scholar	rs12483377
google	rs12483377
pharmgkb	rs12483377
gwascentral	rs12483377
openSNP	rs12483377
23andMe	rs12483377
SNPshot	rs12483377
SNPdbe	rs12483377
MSV3d	rs12483377
GWAS Ctlg	rs12483377

GMAF

0.0551

Max Magnitude

1

aka c.4309G>A (p.Asp1437Asn)

formerly considered a mutation; now considered benign

?

(A;A) (A;G) (G;G)

28

OMIM	120328
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs12483377(A;A)
Alt	Rs12483377(A;A)
Reference	Rs12483377(G;G)
Significance	Pathogenic
Disease	Knobloch syndrome 1 not specified
Variation	info
Gene	COL18A1
CLNDBN	Knobloch syndrome 1 not specified
Reversed	0
HGVS	NC_000021.8:g.46931109G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018655.28, RCV000248578.1,

[PMID 18805939 ] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 19493349 ] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

[PMID 19961619 ] A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).