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rs104886386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGGA;TGGA) 0 common in clinvar
Make rs104886386(-;-)
Make rs104886386(-;TGGA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668332
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886386
ebirs104886386
HLIrs104886386
Exacrs104886386
Varsomers104886386
Maprs104886386
PheGenIrs104886386
hapmaprs104886386
1000 genomesrs104886386
hgdprs104886386
ensemblrs104886386
gopubmedrs104886386
geneviewrs104886386
scholarrs104886386
googlers104886386
pharmgkbrs104886386
gwascentralrs104886386
openSNPrs104886386
23andMers104886386
23andMe allrs104886386
SNP Nexus

SNPshotrs104886386
SNPdbers104886386
MSV3drs104886386
GWAS Ctlgrs104886386
Max Magnitude0
ClinVar
Risk rs104886386(;)
Alt rs104886386(;)
Reference rs104886386(TGGA;TGGA)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911562_107911565delTGGA
CLNSRC
CLNACC


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.