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rs104886421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs104886421(-;-)
Make rs104886421(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687675
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886421
ebirs104886421
HLIrs104886421
Exacrs104886421
Varsomers104886421
Maprs104886421
PheGenIrs104886421
hapmaprs104886421
1000 genomesrs104886421
hgdprs104886421
ensemblrs104886421
gopubmedrs104886421
geneviewrs104886421
scholarrs104886421
googlers104886421
pharmgkbrs104886421
gwascentralrs104886421
openSNPrs104886421
23andMers104886421
23andMe allrs104886421
SNP Nexus

SNPshotrs104886421
SNPdbers104886421
MSV3drs104886421
GWAS Ctlgrs104886421
Max Magnitude0
ClinVar
Risk rs104886421(;)
Alt rs104886421(;)
Reference rs104886421(AG;AG)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930905_107930906delAG
CLNSRC ClinVar
CLNACC RCV000021620.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

OMIM301050
Desc
Variant
Relatedalso