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rs104886088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886088(A;A)
Make rs104886088(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108582920
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886088
ebirs104886088
HLIrs104886088
Exacrs104886088
Varsomers104886088
Maprs104886088
PheGenIrs104886088
hapmaprs104886088
1000 genomesrs104886088
hgdprs104886088
ensemblrs104886088
gopubmedrs104886088
geneviewrs104886088
scholarrs104886088
googlers104886088
pharmgkbrs104886088
gwascentralrs104886088
openSNPrs104886088
23andMers104886088
23andMe allrs104886088
SNP Nexus

SNPshotrs104886088
SNPdbers104886088
MSV3drs104886088
GWAS Ctlgrs104886088
Max Magnitude0
OMIM303630
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104886088(A,T;A,T)
Alt rs104886088(A,T;A,T)
Reference rs104886088(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107826150G>A; NC_000023.10:g.107826150G>T
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011205.3, RCV000021231.1,


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


[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.