rs2229813

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	1	slight increase possibly in risk for keratoconus
(A;G)	1	slight increase possibly in risk for keratoconus
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

2

Position

227028004

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs2229813
dbSNP (classic)	rs2229813
ClinGen	rs2229813
ebi	rs2229813
HLI	rs2229813
Exac	rs2229813
Gnomad	rs2229813
Varsome	rs2229813
LitVar	rs2229813
Map	rs2229813
PheGenI	rs2229813
Biobank	rs2229813
1000 genomes	rs2229813
hgdp	rs2229813
ensembl	rs2229813
geneview	rs2229813
scholar	rs2229813
google	rs2229813
pharmgkb	rs2229813
gwascentral	rs2229813
openSNP	rs2229813
23andMe	rs2229813
SNPshot	rs2229813
SNPdbe	rs2229813
MSV3d	rs2229813
GWAS Ctlg	rs2229813

Max Magnitude

1

[PMID 25651396] Evaluation of Possible Relationship Between COL4A4 Gene Polymorphisms and Risk of Keratoconus

ClinVar
Risk	Rs2229813(A;A)
Alt	Rs2229813(A;A)
Reference	Rs2229813(G;G)
Significance	Probable-Pathogenic
Disease	not provided not specified Alport syndrome
Variation	info
Gene	COL4A4
CLNDBN	not provided not specified Alport syndrome
Reversed	1
HGVS	NC_000002.11:g.227892720C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000171504.1, RCV000246048.1, RCV000271269.1,