rs2228555

Orientation

minus

Stabilized

minus

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

Make rs2228555(A;G)

Make rs2228555(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

227008279

Gene

COL4A4

is a	snp
is	mentioned by
dbSNP	rs2228555
dbSNP (classic)	rs2228555
ClinGen	rs2228555
ebi	rs2228555
HLI	rs2228555
Exac	rs2228555
Gnomad	rs2228555
Varsome	rs2228555
LitVar	rs2228555
Map	rs2228555
PheGenI	rs2228555
Biobank	rs2228555
1000 genomes	rs2228555
hgdp	rs2228555
ensembl	rs2228555
geneview	rs2228555
scholar	rs2228555
google	rs2228555
pharmgkb	rs2228555
gwascentral	rs2228555
openSNP	rs2228555
23andMe	rs2228555
SNPshot	rs2228555
SNPdbe	rs2228555
MSV3d	rs2228555
GWAS Ctlg	rs2228555

Max Magnitude

0

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

ClinVar
Risk	rs2228555(G;G)
Alt	rs2228555(G;G)
Reference	Rs2228555(A;A)
Significance	Non-pathogenic
Disease	not specified Alport syndrome
Variation	info
Gene	COL4A4
CLNDBN	not specified Alport syndrome
Reversed	1
HGVS	NC_000002.11:g.227872995T>C
CLNSRC
CLNACC	RCV000250409.1, RCV000284418.1,