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rs104886077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886077(-;-)
Make rs104886077(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578292
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886077
ebirs104886077
HLIrs104886077
Exacrs104886077
Varsomers104886077
Maprs104886077
PheGenIrs104886077
hapmaprs104886077
1000 genomesrs104886077
hgdprs104886077
ensemblrs104886077
gopubmedrs104886077
geneviewrs104886077
scholarrs104886077
googlers104886077
pharmgkbrs104886077
gwascentralrs104886077
openSNPrs104886077
23andMers104886077
23andMe allrs104886077
SNP Nexus

SNPshotrs104886077
SNPdbers104886077
MSV3drs104886077
GWAS Ctlgrs104886077
Max Magnitude0
ClinVar
Risk rs104886077(;)
Alt rs104886077(;)
Reference rs104886077(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821522delG
CLNSRC ClinVar
CLNACC RCV000021193.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso