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rs104886265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886265(-;-)
Make rs104886265(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108680746
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886265
ebirs104886265
HLIrs104886265
Exacrs104886265
Varsomers104886265
Maprs104886265
PheGenIrs104886265
hapmaprs104886265
1000 genomesrs104886265
hgdprs104886265
ensemblrs104886265
gopubmedrs104886265
geneviewrs104886265
scholarrs104886265
googlers104886265
pharmgkbrs104886265
gwascentralrs104886265
openSNPrs104886265
23andMers104886265
23andMe allrs104886265
SNP Nexus

SNPshotrs104886265
SNPdbers104886265
MSV3drs104886265
GWAS Ctlgrs104886265
Max Magnitude0
ClinVar
Risk rs104886265(;)
Alt rs104886265(;)
Reference rs104886265(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107923976delT
CLNSRC ClinVar
CLNACC RCV000021574.1,


[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