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rs1057516203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516203(-;-)
Make rs1057516203(-;A)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position108694863
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs1057516203
dbSNP (old)rs1057516203
ClinGenrs1057516203
ebirs1057516203
HLIrs1057516203
Exacrs1057516203
Gnomadrs1057516203
Varsomers1057516203
Maprs1057516203
PheGenIrs1057516203
Biobankrs1057516203
1000 genomesrs1057516203
hgdprs1057516203
ensemblrs1057516203
gopubmedrs1057516203
geneviewrs1057516203
scholarrs1057516203
googlers1057516203
pharmgkbrs1057516203
gwascentralrs1057516203
openSNPrs1057516203
23andMers1057516203
23andMe allrs1057516203
SNPshotrs1057516203
SNPdbers1057516203
MSV3drs1057516203
GWAS Ctlgrs1057516203
Max Magnitude0
ClinVar
Risk rs1057516203(-;-)
Alt rs1057516203(-;-)
Reference Rs1057516203(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938093delA
CLNSRC
CLNACC RCV000408894.1,