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rs2229813

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome2
Position227028004
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs2229813
dbSNP (old)rs2229813
ClinGenrs2229813
ebirs2229813
HLIrs2229813
Exacrs2229813
Gnomadrs2229813
Varsomers2229813
Maprs2229813
PheGenIrs2229813
Biobankrs2229813
1000 genomesrs2229813
hgdprs2229813
ensemblrs2229813
gopubmedrs2229813
geneviewrs2229813
scholarrs2229813
googlers2229813
pharmgkbrs2229813
gwascentralrs2229813
openSNPrs2229813
23andMers2229813
23andMe allrs2229813
SNP Nexus

SNPshotrs2229813
SNPdbers2229813
MSV3drs2229813
GWAS Ctlgrs2229813
Max Magnitude1

[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,