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rs104886369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTA;GTA) 0 common in clinvar
(TAG;TAG) 0 common in clinvar
Make rs104886369(-;-)
Make rs104886369(-;TAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622731
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886369
ebirs104886369
HLIrs104886369
Exacrs104886369
Varsomers104886369
Maprs104886369
PheGenIrs104886369
hapmaprs104886369
1000 genomesrs104886369
hgdprs104886369
ensemblrs104886369
gopubmedrs104886369
geneviewrs104886369
scholarrs104886369
googlers104886369
pharmgkbrs104886369
gwascentralrs104886369
openSNPrs104886369
23andMers104886369
23andMe allrs104886369
SNP Nexus

SNPshotrs104886369
SNPdbers104886369
MSV3drs104886369
GWAS Ctlgrs104886369
Max Magnitude0
ClinVar
Risk rs104886369(;)
Alt rs104886369(;)
Reference rs104886369(GTA;GTA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865961_107865963delTAG
CLNSRC ClinVar
CLNACC RCV000021448.1,


[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