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rs778034451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778034451(A;A)
Make rs778034451(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position227273117
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs778034451
dbSNP (classic)rs778034451
ClinGenrs778034451
ebirs778034451
HLIrs778034451
Exacrs778034451
Gnomadrs778034451
Varsomers778034451
LitVarrs778034451
Maprs778034451
PheGenIrs778034451
Biobankrs778034451
1000 genomesrs778034451
hgdprs778034451
ensemblrs778034451
geneviewrs778034451
scholarrs778034451
googlers778034451
pharmgkbrs778034451
gwascentralrs778034451
openSNPrs778034451
23andMers778034451
SNPshotrs778034451
SNPdbers778034451
MSV3drs778034451
GWAS Ctlgrs778034451
Max Magnitude0
ClinVar
Risk rs778034451(A;A)
Alt rs778034451(A;A)
Reference Rs778034451(G;G)
Significance Probable-Pathogenic
Disease Alport syndrome Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome Alport syndrome, autosomal recessive
Reversed 0
HGVS NC_000002.11:g.228137833G>A
CLNSRC
CLNACC RCV000348330.1, RCV000449541.1,