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rs869025328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025328(G;T)
Make rs869025328(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position227253638
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs869025328
dbSNP (classic)rs869025328
ClinGenrs869025328
ebirs869025328
HLIrs869025328
Exacrs869025328
Gnomadrs869025328
Varsomers869025328
LitVarrs869025328
Maprs869025328
PheGenIrs869025328
Biobankrs869025328
1000 genomesrs869025328
hgdprs869025328
ensemblrs869025328
geneviewrs869025328
scholarrs869025328
googlers869025328
pharmgkbrs869025328
gwascentralrs869025328
openSNPrs869025328
23andMers869025328
SNPshotrs869025328
SNPdbers869025328
MSV3drs869025328
GWAS Ctlgrs869025328
Max Magnitude0
ClinVar
Risk rs869025328(A;A) rs869025328(T;T)
Alt rs869025328(A;A) rs869025328(T;T)
Reference Rs869025328(G;G)
Significance Pathogenic
Disease Alport syndrome Benign familial hematuria
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal recessive Benign familial hematuria
Reversed 0
HGVS NC_000002.11:g.228118354G>A; NC_000002.11:g.228118354G>T
CLNSRC
CLNACC RCV000256383.1, RCV000207854.1,