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

rs104886208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886208(-;-)
Make rs104886208(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625745
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886208
ebirs104886208
HLIrs104886208
Exacrs104886208
Varsomers104886208
Maprs104886208
PheGenIrs104886208
hapmaprs104886208
1000 genomesrs104886208
hgdprs104886208
ensemblrs104886208
gopubmedrs104886208
geneviewrs104886208
scholarrs104886208
googlers104886208
pharmgkbrs104886208
gwascentralrs104886208
openSNPrs104886208
23andMers104886208
23andMe allrs104886208
SNP Nexus

SNPshotrs104886208
SNPdbers104886208
MSV3drs104886208
GWAS Ctlgrs104886208
Max Magnitude0
ClinVar
Risk rs104886208(;)
Alt rs104886208(;)
Reference rs104886208(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107868975delT
CLNSRC ClinVar
CLNACC RCV000021468.1,


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

OMIM301050
Desc
Variant
Relatedalso