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rs760462252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760462252(C;T)
Make rs760462252(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position227307839
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs760462252
dbSNP (classic)rs760462252
ClinGenrs760462252
ebirs760462252
HLIrs760462252
Exacrs760462252
Gnomadrs760462252
Varsomers760462252
LitVarrs760462252
Maprs760462252
PheGenIrs760462252
Biobankrs760462252
1000 genomesrs760462252
hgdprs760462252
ensemblrs760462252
geneviewrs760462252
scholarrs760462252
googlers760462252
pharmgkbrs760462252
gwascentralrs760462252
openSNPrs760462252
23andMers760462252
SNPshotrs760462252
SNPdbers760462252
MSV3drs760462252
GWAS Ctlgrs760462252
Max Magnitude0
ClinVar
Risk rs760462252(T;T)
Alt rs760462252(T;T)
Reference Rs760462252(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.228172555C>T
CLNSRC
CLNACC RCV000416721.1,