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rs104886380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886380(-;-)
Make rs104886380(-;CCTG)
Make rs104886380(CCTG;CCTG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108655421
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886380
ebirs104886380
HLIrs104886380
Exacrs104886380
Varsomers104886380
Maprs104886380
PheGenIrs104886380
hapmaprs104886380
1000 genomesrs104886380
hgdprs104886380
ensemblrs104886380
gopubmedrs104886380
geneviewrs104886380
scholarrs104886380
googlers104886380
pharmgkbrs104886380
gwascentralrs104886380
openSNPrs104886380
23andMers104886380
23andMe allrs104886380
SNP Nexus

SNPshotrs104886380
SNPdbers104886380
MSV3drs104886380
GWAS Ctlgrs104886380
Max Magnitude0
ClinVar
Risk rs104886380(CCTG;CCTG)
Alt rs104886380(CCTG;CCTG)
Reference rs104886380(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107898648_107898651dupCCTG
CLNSRC ClinVar
CLNACC RCV000021499.1,


[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