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rs104886317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886317(A;A)
Make rs104886317(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586748
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886317
ebirs104886317
HLIrs104886317
Exacrs104886317
Varsomers104886317
Maprs104886317
PheGenIrs104886317
hapmaprs104886317
1000 genomesrs104886317
hgdprs104886317
ensemblrs104886317
gopubmedrs104886317
geneviewrs104886317
scholarrs104886317
googlers104886317
pharmgkbrs104886317
gwascentralrs104886317
openSNPrs104886317
23andMers104886317
23andMe allrs104886317
SNP Nexus

SNPshotrs104886317
SNPdbers104886317
MSV3drs104886317
GWAS Ctlgrs104886317
Max Magnitude0
ClinVar
Risk rs104886317(A;A)
Alt rs104886317(A;A)
Reference rs104886317(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829978G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021250.1,


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

OMIM301050
Desc
Variant
Relatedalso