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rs104886441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886441(C;G)
Make rs104886441(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578288
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886441
ebirs104886441
HLIrs104886441
Exacrs104886441
Varsomers104886441
Maprs104886441
PheGenIrs104886441
hapmaprs104886441
1000 genomesrs104886441
hgdprs104886441
ensemblrs104886441
gopubmedrs104886441
geneviewrs104886441
scholarrs104886441
googlers104886441
pharmgkbrs104886441
gwascentralrs104886441
openSNPrs104886441
23andMers104886441
23andMe allrs104886441
SNP Nexus

SNPshotrs104886441
SNPdbers104886441
MSV3drs104886441
GWAS Ctlgrs104886441
Max Magnitude0
ClinVar
Risk rs104886441(G;G)
Alt rs104886441(G;G)
Reference rs104886441(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821518C>G
CLNSRC ARUP COL4A5
CLNACC RCV000021191.1,


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

OMIM301050
Desc
Variant
Relatedalso