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rs104886067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886067(A;A)
Make rs104886067(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578078
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886067
ebirs104886067
HLIrs104886067
Exacrs104886067
Varsomers104886067
Maprs104886067
PheGenIrs104886067
hapmaprs104886067
1000 genomesrs104886067
hgdprs104886067
ensemblrs104886067
gopubmedrs104886067
geneviewrs104886067
scholarrs104886067
googlers104886067
pharmgkbrs104886067
gwascentralrs104886067
openSNPrs104886067
23andMers104886067
23andMe allrs104886067
SNP Nexus

SNPshotrs104886067
SNPdbers104886067
MSV3drs104886067
GWAS Ctlgrs104886067
Max Magnitude0
ClinVar
Risk rs104886067(A;A)
Alt rs104886067(A;A)
Reference rs104886067(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821308G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021185.1,


[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso