Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886226(-;-)
Make rs104886226(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655415
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886226
ebirs104886226
HLIrs104886226
Exacrs104886226
Varsomers104886226
Maprs104886226
PheGenIrs104886226
hapmaprs104886226
1000 genomesrs104886226
hgdprs104886226
ensemblrs104886226
gopubmedrs104886226
geneviewrs104886226
scholarrs104886226
googlers104886226
pharmgkbrs104886226
gwascentralrs104886226
openSNPrs104886226
23andMers104886226
23andMe allrs104886226
SNP Nexus

SNPshotrs104886226
SNPdbers104886226
MSV3drs104886226
GWAS Ctlgrs104886226
Max Magnitude0
ClinVar
Risk rs104886226(;)
Alt rs104886226(;)
Reference rs104886226(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898645delA
CLNSRC ClinVar
CLNACC RCV000021498.1,


[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