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rs104886388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886388(A;G)
Make rs104886388(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666487
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886388
ebirs104886388
HLIrs104886388
Exacrs104886388
Varsomers104886388
Maprs104886388
PheGenIrs104886388
hapmaprs104886388
1000 genomesrs104886388
hgdprs104886388
ensemblrs104886388
gopubmedrs104886388
geneviewrs104886388
scholarrs104886388
googlers104886388
pharmgkbrs104886388
gwascentralrs104886388
openSNPrs104886388
23andMers104886388
23andMe allrs104886388
SNP Nexus

SNPshotrs104886388
SNPdbers104886388
MSV3drs104886388
GWAS Ctlgrs104886388
Max Magnitude0
ClinVar
Risk rs104886388(G;G)
Alt rs104886388(G;G)
Reference rs104886388(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909717A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021512.1,


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

OMIM301050
Desc
Variant
Relatedalso