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rs104886404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886404(-;-)
Make rs104886404(-;TCCT)
Make rs104886404(TCCT;TCCT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108681833
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886404
ebirs104886404
HLIrs104886404
Exacrs104886404
Varsomers104886404
Maprs104886404
PheGenIrs104886404
hapmaprs104886404
1000 genomesrs104886404
hgdprs104886404
ensemblrs104886404
gopubmedrs104886404
geneviewrs104886404
scholarrs104886404
googlers104886404
pharmgkbrs104886404
gwascentralrs104886404
openSNPrs104886404
23andMers104886404
23andMe allrs104886404
SNP Nexus

SNPshotrs104886404
SNPdbers104886404
MSV3drs104886404
GWAS Ctlgrs104886404
Max Magnitude0
ClinVar
Risk rs104886404(TCCT;TCCT)
Alt rs104886404(TCCT;TCCT)
Reference rs104886404(;)
Significance Probable-Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107925063_107925064insTCCT
CLNSRC ARUP_COL4A5
CLNACC SCV000042253.1,


[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