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rs869025329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025329(A;C)
Make rs869025329(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position227098800
GeneCOL4A4
is asnp
is mentioned by
dbSNPrs869025329
dbSNP (classic)rs869025329
ClinGenrs869025329
ebirs869025329
HLIrs869025329
Exacrs869025329
Gnomadrs869025329
Varsomers869025329
LitVarrs869025329
Maprs869025329
PheGenIrs869025329
Biobankrs869025329
1000 genomesrs869025329
hgdprs869025329
ensemblrs869025329
geneviewrs869025329
scholarrs869025329
googlers869025329
pharmgkbrs869025329
gwascentralrs869025329
openSNPrs869025329
23andMers869025329
SNPshotrs869025329
SNPdbers869025329
MSV3drs869025329
GWAS Ctlgrs869025329
Max Magnitude0
ClinVar
Risk rs869025329(C;C)
Alt rs869025329(C;C)
Reference Rs869025329(A;A)
Significance Pathogenic
Disease Benign familial hematuria
Variation info
Gene COL4A4
CLNDBN Benign familial hematuria
Reversed 1
HGVS NC_000002.11:g.227963516T>G
CLNSRC
CLNACC RCV000207864.1,