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rs104886184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886184(C;C)
Make rs104886184(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614979
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886184
ebirs104886184
HLIrs104886184
Exacrs104886184
Varsomers104886184
Maprs104886184
PheGenIrs104886184
hapmaprs104886184
1000 genomesrs104886184
hgdprs104886184
ensemblrs104886184
gopubmedrs104886184
geneviewrs104886184
scholarrs104886184
googlers104886184
pharmgkbrs104886184
gwascentralrs104886184
openSNPrs104886184
23andMers104886184
23andMe allrs104886184
SNP Nexus

SNPshotrs104886184
SNPdbers104886184
MSV3drs104886184
GWAS Ctlgrs104886184
Max Magnitude0
ClinVar
Risk rs104886184(C;C)
Alt rs104886184(C;C)
Reference rs104886184(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858209G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021404.1,


[PMID 10563487] Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso