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rs104886368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886368(-;-)
Make rs104886368(-;T)
Make rs104886368(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622710
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886368
ebirs104886368
HLIrs104886368
Exacrs104886368
Varsomers104886368
Maprs104886368
PheGenIrs104886368
hapmaprs104886368
1000 genomesrs104886368
hgdprs104886368
ensemblrs104886368
gopubmedrs104886368
geneviewrs104886368
scholarrs104886368
googlers104886368
pharmgkbrs104886368
gwascentralrs104886368
openSNPrs104886368
23andMers104886368
23andMe allrs104886368
SNP Nexus

SNPshotrs104886368
SNPdbers104886368
MSV3drs104886368
GWAS Ctlgrs104886368
Max Magnitude0
ClinVar
Risk rs104886368(T;T)
Alt rs104886368(T;T)
Reference rs104886368(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865940dupT
CLNSRC ClinVar
CLNACC RCV000021445.1,


OMIM301050
Desc
Variant
Relatedalso

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