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rs104886272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886272(G;T)
Make rs104886272(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686093
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886272
ebirs104886272
HLIrs104886272
Exacrs104886272
Varsomers104886272
Maprs104886272
PheGenIrs104886272
hapmaprs104886272
1000 genomesrs104886272
hgdprs104886272
ensemblrs104886272
gopubmedrs104886272
geneviewrs104886272
scholarrs104886272
googlers104886272
pharmgkbrs104886272
gwascentralrs104886272
openSNPrs104886272
23andMers104886272
23andMe allrs104886272
SNP Nexus

SNPshotrs104886272
SNPdbers104886272
MSV3drs104886272
GWAS Ctlgrs104886272
Max Magnitude0
ClinVar
Risk rs104886272(T;T)
Alt rs104886272(T;T)
Reference rs104886272(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929323G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021600.1,


[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