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rs104886364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTGGTGTACCTGG;GTGGTGTACCTGG) 0 common in clinvar
Make rs104886364(AT;AT)
Make rs104886364(AT;GTGGTGTACCTGG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621872
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886364
ebirs104886364
HLIrs104886364
Exacrs104886364
Varsomers104886364
Maprs104886364
PheGenIrs104886364
hapmaprs104886364
1000 genomesrs104886364
hgdprs104886364
ensemblrs104886364
gopubmedrs104886364
geneviewrs104886364
scholarrs104886364
googlers104886364
pharmgkbrs104886364
gwascentralrs104886364
openSNPrs104886364
23andMers104886364
23andMe allrs104886364
SNP Nexus

SNPshotrs104886364
SNPdbers104886364
MSV3drs104886364
GWAS Ctlgrs104886364
Max Magnitude0
ClinVar
Risk rs104886364(AT;AT)
Alt rs104886364(AT;AT)
Reference rs104886364(GTGGTGTACCTGG;GTGGTGTACCTGG)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865102_107865114delGTGGTGTACCTGGinsAT
CLNSRC
CLNACC


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