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rs104886056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886056(C;C)
Make rs104886056(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573637
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886056
ebirs104886056
HLIrs104886056
Exacrs104886056
Varsomers104886056
Maprs104886056
PheGenIrs104886056
hapmaprs104886056
1000 genomesrs104886056
hgdprs104886056
ensemblrs104886056
gopubmedrs104886056
geneviewrs104886056
scholarrs104886056
googlers104886056
pharmgkbrs104886056
gwascentralrs104886056
openSNPrs104886056
23andMers104886056
23andMe allrs104886056
SNP Nexus

SNPshotrs104886056
SNPdbers104886056
MSV3drs104886056
GWAS Ctlgrs104886056
Max Magnitude0
ClinVar
Risk rs104886056(C,T;C,T)
Alt rs104886056(C,T;C,T)
Reference rs104886056(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816867G>C; NC_000023.10:g.107816867G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021158.1, RCV000021157.1,


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


[PMID 11004279] Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso