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rs104886097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886097(A;A)
Make rs104886097(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586694
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886097
ebirs104886097
HLIrs104886097
Exacrs104886097
Varsomers104886097
Maprs104886097
PheGenIrs104886097
hapmaprs104886097
1000 genomesrs104886097
hgdprs104886097
ensemblrs104886097
gopubmedrs104886097
geneviewrs104886097
scholarrs104886097
googlers104886097
pharmgkbrs104886097
gwascentralrs104886097
openSNPrs104886097
23andMers104886097
23andMe allrs104886097
SNP Nexus

SNPshotrs104886097
SNPdbers104886097
MSV3drs104886097
GWAS Ctlgrs104886097
Max Magnitude0
ClinVar
Risk rs104886097(A;A)
Alt rs104886097(A;A)
Reference rs104886097(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829924G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021245.1,


[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