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rs104886353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGACCAAATGGACAACCT;GGACCAAATGGACAACCT) 0 common in clinvar
Make rs104886353(-;-)
Make rs104886353(-;GGACCAAATGGACAACCT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614919
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886353
dbSNP (old)rs104886353
ClinGenrs104886353
ebirs104886353
HLIrs104886353
Exacrs104886353
Gnomadrs104886353
Varsomers104886353
Maprs104886353
PheGenIrs104886353
Biobankrs104886353
1000 genomesrs104886353
hgdprs104886353
ensemblrs104886353
gopubmedrs104886353
geneviewrs104886353
scholarrs104886353
googlers104886353
pharmgkbrs104886353
gwascentralrs104886353
openSNPrs104886353
23andMers104886353
23andMe allrs104886353
SNP Nexus

SNPshotrs104886353
SNPdbers104886353
MSV3drs104886353
GWAS Ctlgrs104886353
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs104886353(GGACCAAATGGACAACCT;GGACCAAATGGACAACCT)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858149_107858166del18
CLNSRC
CLNACC


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.