Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519376(C;C)
Make rs1057519376(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position227257613
GeneCOL4A3, LOC654841
is asnp
is mentioned by
dbSNPrs1057519376
dbSNP (old)rs1057519376
ClinGenrs1057519376
ebirs1057519376
HLIrs1057519376
Exacrs1057519376
Gnomadrs1057519376
Varsomers1057519376
Maprs1057519376
PheGenIrs1057519376
Biobankrs1057519376
1000 genomesrs1057519376
hgdprs1057519376
ensemblrs1057519376
gopubmedrs1057519376
geneviewrs1057519376
scholarrs1057519376
googlers1057519376
pharmgkbrs1057519376
gwascentralrs1057519376
openSNPrs1057519376
23andMers1057519376
23andMe allrs1057519376
SNPshotrs1057519376
SNPdbers1057519376
MSV3drs1057519376
GWAS Ctlgrs1057519376
Max Magnitude0
ClinVar
Risk rs1057519376(C;C)
Alt rs1057519376(C;C)
Reference Rs1057519376(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A3 LOC654841
CLNDBN Alport syndrome, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.228122329G>C
CLNSRC
CLNACC RCV000416934.1,