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rs104886188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886188(A;A)
Make rs104886188(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620346
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886188
ebirs104886188
HLIrs104886188
Exacrs104886188
Varsomers104886188
Maprs104886188
PheGenIrs104886188
hapmaprs104886188
1000 genomesrs104886188
hgdprs104886188
ensemblrs104886188
gopubmedrs104886188
geneviewrs104886188
scholarrs104886188
googlers104886188
pharmgkbrs104886188
gwascentralrs104886188
openSNPrs104886188
23andMers104886188
23andMe allrs104886188
SNP Nexus

SNPshotrs104886188
SNPdbers104886188
MSV3drs104886188
GWAS Ctlgrs104886188
Max Magnitude0
ClinVar
Risk rs104886188(A;A)
Alt rs104886188(A;A)
Reference rs104886188(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863576G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021420.1,


[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