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rs104886215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886215(A;A)
Make rs104886215(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626237
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886215
ebirs104886215
HLIrs104886215
Exacrs104886215
Varsomers104886215
Maprs104886215
PheGenIrs104886215
hapmaprs104886215
1000 genomesrs104886215
hgdprs104886215
ensemblrs104886215
gopubmedrs104886215
geneviewrs104886215
scholarrs104886215
googlers104886215
pharmgkbrs104886215
gwascentralrs104886215
openSNPrs104886215
23andMers104886215
23andMe allrs104886215
SNP Nexus

SNPshotrs104886215
SNPdbers104886215
MSV3drs104886215
GWAS Ctlgrs104886215
Max Magnitude0
ClinVar
Risk rs104886215(A;A)
Alt rs104886215(A;A)
Reference rs104886215(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869467G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021475.1,


[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso