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rs104886059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886059(G;T)
Make rs104886059(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575911
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886059
ebirs104886059
HLIrs104886059
Exacrs104886059
Varsomers104886059
Maprs104886059
PheGenIrs104886059
hapmaprs104886059
1000 genomesrs104886059
hgdprs104886059
ensemblrs104886059
gopubmedrs104886059
geneviewrs104886059
scholarrs104886059
googlers104886059
pharmgkbrs104886059
gwascentralrs104886059
openSNPrs104886059
23andMers104886059
23andMe allrs104886059
SNP Nexus

SNPshotrs104886059
SNPdbers104886059
MSV3drs104886059
GWAS Ctlgrs104886059
Max Magnitude0
ClinVar
Risk rs104886059(T;T)
Alt rs104886059(T;T)
Reference rs104886059(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819141G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021167.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso