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rs201220208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201220208(A;A)
Make rs201220208(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108692786
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs201220208
ebirs201220208
HLIrs201220208
Exacrs201220208
Varsomers201220208
Maprs201220208
PheGenIrs201220208
hapmaprs201220208
1000 genomesrs201220208
hgdprs201220208
ensemblrs201220208
gopubmedrs201220208
geneviewrs201220208
scholarrs201220208
googlers201220208
pharmgkbrs201220208
gwascentralrs201220208
openSNPrs201220208
23andMers201220208
23andMe allrs201220208
SNP Nexus

SNPshotrs201220208
SNPdbers201220208
MSV3drs201220208
GWAS Ctlgrs201220208
Max Magnitude0
ClinVar
Risk rs201220208(A;A)
Alt rs201220208(A;A)
Reference rs201220208(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107936016C>A
CLNSRC ARUP COL4A5
CLNACC RCV000021628.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.