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rs104886379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886379(A;G)
Make rs104886379(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626208
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886379
ebirs104886379
HLIrs104886379
Exacrs104886379
Varsomers104886379
Maprs104886379
PheGenIrs104886379
hapmaprs104886379
1000 genomesrs104886379
hgdprs104886379
ensemblrs104886379
gopubmedrs104886379
geneviewrs104886379
scholarrs104886379
googlers104886379
pharmgkbrs104886379
gwascentralrs104886379
openSNPrs104886379
23andMers104886379
23andMe allrs104886379
SNP Nexus

SNPshotrs104886379
SNPdbers104886379
MSV3drs104886379
GWAS Ctlgrs104886379
Max Magnitude0
ClinVar
Risk rs104886379(G;G)
Alt rs104886379(G;G)
Reference rs104886379(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869438A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021472.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso