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rs869025325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025325(G;T)
Make rs869025325(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position227295035
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs869025325
dbSNP (classic)rs869025325
ClinGenrs869025325
ebirs869025325
HLIrs869025325
Exacrs869025325
Gnomadrs869025325
Varsomers869025325
LitVarrs869025325
Maprs869025325
PheGenIrs869025325
Biobankrs869025325
1000 genomesrs869025325
hgdprs869025325
ensemblrs869025325
geneviewrs869025325
scholarrs869025325
googlers869025325
pharmgkbrs869025325
gwascentralrs869025325
openSNPrs869025325
23andMers869025325
SNPshotrs869025325
SNPdbers869025325
MSV3drs869025325
GWAS Ctlgrs869025325
Max Magnitude0
ClinVar
Risk rs869025325(T;T)
Alt rs869025325(T;T)
Reference Rs869025325(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.228159751G>T
CLNSRC
CLNACC RCV000207840.1,