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rs104886263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886263(A;A)
Make rs104886263(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668477
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886263
ebirs104886263
HLIrs104886263
Exacrs104886263
Varsomers104886263
Maprs104886263
PheGenIrs104886263
hapmaprs104886263
1000 genomesrs104886263
hgdprs104886263
ensemblrs104886263
gopubmedrs104886263
geneviewrs104886263
scholarrs104886263
googlers104886263
pharmgkbrs104886263
gwascentralrs104886263
openSNPrs104886263
23andMers104886263
23andMe allrs104886263
SNP Nexus

SNPshotrs104886263
SNPdbers104886263
MSV3drs104886263
GWAS Ctlgrs104886263
Max Magnitude0
ClinVar
Risk rs104886263(A;A)
Alt rs104886263(A;A)
Reference rs104886263(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911707G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021560.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso