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rs104886094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886094(C;T)
Make rs104886094(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586699
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886094
ebirs104886094
HLIrs104886094
Exacrs104886094
Varsomers104886094
Maprs104886094
PheGenIrs104886094
hapmaprs104886094
1000 genomesrs104886094
hgdprs104886094
ensemblrs104886094
gopubmedrs104886094
geneviewrs104886094
scholarrs104886094
googlers104886094
pharmgkbrs104886094
gwascentralrs104886094
openSNPrs104886094
23andMers104886094
23andMe allrs104886094
SNP Nexus

SNPshotrs104886094
SNPdbers104886094
MSV3drs104886094
GWAS Ctlgrs104886094
Max Magnitude0
ClinVar
Risk rs104886094(T;T)
Alt rs104886094(T;T)
Reference rs104886094(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829929C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021246.1,


[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