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rs104886101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886101(A;A)
Make rs104886101(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591118
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886101
ebirs104886101
HLIrs104886101
Exacrs104886101
Varsomers104886101
Maprs104886101
PheGenIrs104886101
hapmaprs104886101
1000 genomesrs104886101
hgdprs104886101
ensemblrs104886101
gopubmedrs104886101
geneviewrs104886101
scholarrs104886101
googlers104886101
pharmgkbrs104886101
gwascentralrs104886101
openSNPrs104886101
23andMers104886101
23andMe allrs104886101
SNP Nexus

SNPshotrs104886101
SNPdbers104886101
MSV3drs104886101
GWAS Ctlgrs104886101
Max Magnitude0
ClinVar
Risk rs104886101(A;A)
Alt rs104886101(A;A)
Reference rs104886101(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834348G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021265.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso