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rs104886261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886261(A;A)
Make rs104886261(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668445
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886261
ebirs104886261
HLIrs104886261
Exacrs104886261
Varsomers104886261
Maprs104886261
PheGenIrs104886261
hapmaprs104886261
1000 genomesrs104886261
hgdprs104886261
ensemblrs104886261
gopubmedrs104886261
geneviewrs104886261
scholarrs104886261
googlers104886261
pharmgkbrs104886261
gwascentralrs104886261
openSNPrs104886261
23andMers104886261
23andMe allrs104886261
SNP Nexus

SNPshotrs104886261
SNPdbers104886261
MSV3drs104886261
GWAS Ctlgrs104886261
Max Magnitude0
ClinVar
Risk rs104886261(A;A)
Alt rs104886261(A;A)
Reference rs104886261(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911675G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021557.1,


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

OMIM301050
Desc
Variant
Relatedalso