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rs104886060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886060(A;A)
Make rs104886060(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108575937
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886060
ebirs104886060
HLIrs104886060
Exacrs104886060
Varsomers104886060
Maprs104886060
PheGenIrs104886060
hapmaprs104886060
1000 genomesrs104886060
hgdprs104886060
ensemblrs104886060
gopubmedrs104886060
geneviewrs104886060
scholarrs104886060
googlers104886060
pharmgkbrs104886060
gwascentralrs104886060
openSNPrs104886060
23andMers104886060
23andMe allrs104886060
SNP Nexus

SNPshotrs104886060
SNPdbers104886060
MSV3drs104886060
GWAS Ctlgrs104886060
Max Magnitude0
ClinVar
Risk rs104886060(A;A)
Alt rs104886060(A;A)
Reference rs104886060(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107819167G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021169.1,


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

OMIM301050
Desc
Variant
Relatedalso