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rs375040636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375040636(A;A)
Make rs375040636(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position227279882
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs375040636
dbSNP (classic)rs375040636
ClinGenrs375040636
ebirs375040636
HLIrs375040636
Exacrs375040636
Gnomadrs375040636
Varsomers375040636
LitVarrs375040636
Maprs375040636
PheGenIrs375040636
Biobankrs375040636
1000 genomesrs375040636
hgdprs375040636
ensemblrs375040636
geneviewrs375040636
scholarrs375040636
googlers375040636
pharmgkbrs375040636
gwascentralrs375040636
openSNPrs375040636
23andMers375040636
SNPshotrs375040636
SNPdbers375040636
MSV3drs375040636
GWAS Ctlgrs375040636
Max Magnitude0
ClinVar
Risk rs375040636(A;A)
Alt rs375040636(A;A)
Reference Rs375040636(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.228144598G>A
CLNSRC
CLNACC RCV000411680.1,