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rs104886063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886063(A;A)
Make rs104886063(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108577953
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886063
ebirs104886063
HLIrs104886063
Exacrs104886063
Varsomers104886063
Maprs104886063
PheGenIrs104886063
hapmaprs104886063
1000 genomesrs104886063
hgdprs104886063
ensemblrs104886063
gopubmedrs104886063
geneviewrs104886063
scholarrs104886063
googlers104886063
pharmgkbrs104886063
gwascentralrs104886063
openSNPrs104886063
23andMers104886063
23andMe allrs104886063
SNP Nexus

SNPshotrs104886063
SNPdbers104886063
MSV3drs104886063
GWAS Ctlgrs104886063
Max Magnitude0
ClinVar
Risk rs104886063(A,T;A,T)
Alt rs104886063(A,T;A,T)
Reference rs104886063(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821183G>A; NC_000023.10:g.107821183G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021178.1, RCV000021179.1,


[PMID 12105244] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso