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rs104886327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886327(-;-)
Make rs104886327(-;A)
Make rs104886327(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591172
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886327
ebirs104886327
HLIrs104886327
Exacrs104886327
Varsomers104886327
Maprs104886327
PheGenIrs104886327
hapmaprs104886327
1000 genomesrs104886327
hgdprs104886327
ensemblrs104886327
gopubmedrs104886327
geneviewrs104886327
scholarrs104886327
googlers104886327
pharmgkbrs104886327
gwascentralrs104886327
openSNPrs104886327
23andMers104886327
23andMe allrs104886327
SNP Nexus

SNPshotrs104886327
SNPdbers104886327
MSV3drs104886327
GWAS Ctlgrs104886327
Max Magnitude0
ClinVar
Risk rs104886327(A;A)
Alt rs104886327(A;A)
Reference rs104886327(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834402dupA
CLNSRC ClinVar
CLNACC RCV000021273.1,


[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