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rs104886382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886382(C;G)
Make rs104886382(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108667130
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886382
ebirs104886382
HLIrs104886382
Exacrs104886382
Varsomers104886382
Maprs104886382
PheGenIrs104886382
hapmaprs104886382
1000 genomesrs104886382
hgdprs104886382
ensemblrs104886382
gopubmedrs104886382
geneviewrs104886382
scholarrs104886382
googlers104886382
pharmgkbrs104886382
gwascentralrs104886382
openSNPrs104886382
23andMers104886382
23andMe allrs104886382
SNP Nexus

SNPshotrs104886382
SNPdbers104886382
MSV3drs104886382
GWAS Ctlgrs104886382
Max Magnitude0
ClinVar
Risk rs104886382(G;G)
Alt rs104886382(G;G)
Reference rs104886382(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107910360C>G
CLNSRC ARUP COL4A5
CLNACC RCV000021526.1,


[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

OMIM301050
Desc
Variant
Relatedalso