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rs104886079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886079(A;A)
Make rs104886079(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580731
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886079
ebirs104886079
HLIrs104886079
Exacrs104886079
Varsomers104886079
Maprs104886079
PheGenIrs104886079
hapmaprs104886079
1000 genomesrs104886079
hgdprs104886079
ensemblrs104886079
gopubmedrs104886079
geneviewrs104886079
scholarrs104886079
googlers104886079
pharmgkbrs104886079
gwascentralrs104886079
openSNPrs104886079
23andMers104886079
23andMe allrs104886079
SNP Nexus

SNPshotrs104886079
SNPdbers104886079
MSV3drs104886079
GWAS Ctlgrs104886079
Max Magnitude0
ClinVar
Risk rs104886079(A;A)
Alt rs104886079(A;A)
Reference rs104886079(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823961G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021214.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM301050
Desc
Variant
Relatedalso