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rs104886257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886257(A;A)
Make rs104886257(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108677517
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886257
ebirs104886257
HLIrs104886257
Exacrs104886257
Varsomers104886257
Maprs104886257
PheGenIrs104886257
hapmaprs104886257
1000 genomesrs104886257
hgdprs104886257
ensemblrs104886257
gopubmedrs104886257
geneviewrs104886257
scholarrs104886257
googlers104886257
pharmgkbrs104886257
gwascentralrs104886257
openSNPrs104886257
23andMers104886257
23andMe allrs104886257
SNP Nexus

SNPshotrs104886257
SNPdbers104886257
MSV3drs104886257
GWAS Ctlgrs104886257
Max Magnitude0
ClinVar
Risk rs104886257(A;A)
Alt rs104886257(A;A)
Reference rs104886257(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107920747G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021564.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso