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rs1060499654

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499654(C;T)
Make rs1060499654(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position227280587
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs1060499654
dbSNP (old)rs1060499654
ClinGenrs1060499654
ebirs1060499654
HLIrs1060499654
Exacrs1060499654
Gnomadrs1060499654
Varsomers1060499654
Maprs1060499654
PheGenIrs1060499654
Biobankrs1060499654
1000 genomesrs1060499654
hgdprs1060499654
ensemblrs1060499654
gopubmedrs1060499654
geneviewrs1060499654
scholarrs1060499654
googlers1060499654
pharmgkbrs1060499654
gwascentralrs1060499654
openSNPrs1060499654
23andMers1060499654
23andMe allrs1060499654
SNPshotrs1060499654
SNPdbers1060499654
MSV3drs1060499654
GWAS Ctlgrs1060499654
Max Magnitude0
ClinVar
Risk rs1060499654(T;T)
Alt rs1060499654(T;T)
Reference Rs1060499654(C;C)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.228145303C>T
CLNSRC
CLNACC RCV000449569.1,