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rs104886270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886270(C;T)
Make rs104886270(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108686060
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886270
ebirs104886270
HLIrs104886270
Exacrs104886270
Varsomers104886270
Maprs104886270
PheGenIrs104886270
hapmaprs104886270
1000 genomesrs104886270
hgdprs104886270
ensemblrs104886270
gopubmedrs104886270
geneviewrs104886270
scholarrs104886270
googlers104886270
pharmgkbrs104886270
gwascentralrs104886270
openSNPrs104886270
23andMers104886270
23andMe allrs104886270
SNP Nexus

SNPshotrs104886270
SNPdbers104886270
MSV3drs104886270
GWAS Ctlgrs104886270
GMAF0.0
Max Magnitude0
ClinVar
Risk rs104886270(T;T)
Alt rs104886270(T;T)
Reference rs104886270(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107929290C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021597.1,


[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