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rs1057519377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519377(A;T)
Make rs1057519377(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position227308910
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs1057519377
dbSNP (old)rs1057519377
ClinGenrs1057519377
ebirs1057519377
HLIrs1057519377
Exacrs1057519377
Gnomadrs1057519377
Varsomers1057519377
LitVarrs1057519377
Maprs1057519377
PheGenIrs1057519377
Biobankrs1057519377
1000 genomesrs1057519377
hgdprs1057519377
ensemblrs1057519377
gopubmedrs1057519377
geneviewrs1057519377
scholarrs1057519377
googlers1057519377
pharmgkbrs1057519377
gwascentralrs1057519377
openSNPrs1057519377
23andMers1057519377
23andMe allrs1057519377
SNPshotrs1057519377
SNPdbers1057519377
MSV3drs1057519377
GWAS Ctlgrs1057519377
Max Magnitude0
ClinVar
Risk rs1057519377(T;T)
Alt rs1057519377(T;T)
Reference Rs1057519377(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.228173626A>T
CLNSRC
CLNACC RCV000416827.1,