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rs104886180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886180(A;A)
Make rs104886180(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614938
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886180
ebirs104886180
HLIrs104886180
Exacrs104886180
Varsomers104886180
Maprs104886180
PheGenIrs104886180
hapmaprs104886180
1000 genomesrs104886180
hgdprs104886180
ensemblrs104886180
gopubmedrs104886180
geneviewrs104886180
scholarrs104886180
googlers104886180
pharmgkbrs104886180
gwascentralrs104886180
openSNPrs104886180
23andMers104886180
23andMe allrs104886180
SNP Nexus

SNPshotrs104886180
SNPdbers104886180
MSV3drs104886180
GWAS Ctlgrs104886180
Max Magnitude0
ClinVar
Risk rs104886180(A;A)
Alt rs104886180(A;A)
Reference rs104886180(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858168G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021398.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso