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rs104886358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886358(A;G)
Make rs104886358(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620226
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886358
ebirs104886358
HLIrs104886358
Exacrs104886358
Varsomers104886358
Maprs104886358
PheGenIrs104886358
hapmaprs104886358
1000 genomesrs104886358
hgdprs104886358
ensemblrs104886358
gopubmedrs104886358
geneviewrs104886358
scholarrs104886358
googlers104886358
pharmgkbrs104886358
gwascentralrs104886358
openSNPrs104886358
23andMers104886358
23andMe allrs104886358
SNP Nexus

SNPshotrs104886358
SNPdbers104886358
MSV3drs104886358
GWAS Ctlgrs104886358
Max Magnitude0
ClinVar
Risk rs104886358(G;G)
Alt rs104886358(G;G)
Reference rs104886358(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863456A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021410.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM301050
Desc
Variant
Relatedalso