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rs104886269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886269(G;T)
Make rs104886269(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681826
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886269
ebirs104886269
HLIrs104886269
Exacrs104886269
Varsomers104886269
Maprs104886269
PheGenIrs104886269
hapmaprs104886269
1000 genomesrs104886269
hgdprs104886269
ensemblrs104886269
gopubmedrs104886269
geneviewrs104886269
scholarrs104886269
googlers104886269
pharmgkbrs104886269
gwascentralrs104886269
openSNPrs104886269
23andMers104886269
23andMe allrs104886269
SNP Nexus

SNPshotrs104886269
SNPdbers104886269
MSV3drs104886269
GWAS Ctlgrs104886269
Max Magnitude0
ClinVar
Risk rs104886269(T;T)
Alt rs104886269(T;T)
Reference rs104886269(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925056G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021585.1,


[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