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rs104886381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886381(A;A)
Make rs104886381(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108667132
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886381
ebirs104886381
HLIrs104886381
Exacrs104886381
Varsomers104886381
Maprs104886381
PheGenIrs104886381
hapmaprs104886381
1000 genomesrs104886381
hgdprs104886381
ensemblrs104886381
gopubmedrs104886381
geneviewrs104886381
scholarrs104886381
googlers104886381
pharmgkbrs104886381
gwascentralrs104886381
openSNPrs104886381
23andMers104886381
23andMe allrs104886381
SNP Nexus

SNPshotrs104886381
SNPdbers104886381
MSV3drs104886381
GWAS Ctlgrs104886381
Max Magnitude0
ClinVar
Risk rs104886381(A;A)
Alt rs104886381(A;A)
Reference rs104886381(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107910362G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021527.1,


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

OMIM301050
Desc
Variant
Relatedalso