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rs1060499696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499696(A;A)
Make rs1060499696(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position227273090
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs1060499696
dbSNP (classic)rs1060499696
ClinGenrs1060499696
ebirs1060499696
HLIrs1060499696
Exacrs1060499696
Gnomadrs1060499696
Varsomers1060499696
LitVarrs1060499696
Maprs1060499696
PheGenIrs1060499696
Biobankrs1060499696
1000 genomesrs1060499696
hgdprs1060499696
ensemblrs1060499696
geneviewrs1060499696
scholarrs1060499696
googlers1060499696
pharmgkbrs1060499696
gwascentralrs1060499696
openSNPrs1060499696
23andMers1060499696
23andMe allrs1060499696
SNPshotrs1060499696
SNPdbers1060499696
MSV3drs1060499696
GWAS Ctlgrs1060499696
Max Magnitude0
ClinVar
Risk rs1060499696(A;A)
Alt rs1060499696(A;A)
Reference Rs1060499696(G;G)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.228137806G>A
CLNSRC
CLNACC RCV000449541.1,