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

rs104886333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs104886333(-;-)
Make rs104886333(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597023
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886333
ebirs104886333
HLIrs104886333
Exacrs104886333
Varsomers104886333
Maprs104886333
PheGenIrs104886333
hapmaprs104886333
1000 genomesrs104886333
hgdprs104886333
ensemblrs104886333
gopubmedrs104886333
geneviewrs104886333
scholarrs104886333
googlers104886333
pharmgkbrs104886333
gwascentralrs104886333
openSNPrs104886333
23andMers104886333
23andMe allrs104886333
SNP Nexus

SNPshotrs104886333
SNPdbers104886333
MSV3drs104886333
GWAS Ctlgrs104886333
Max Magnitude0
ClinVar
Risk rs104886333(;)
Alt rs104886333(;)
Reference rs104886333(AG;AG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840253_107840254delAG
CLNSRC ClinVar
CLNACC RCV000021084.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso