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rs104886193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886193(A;G)
Make rs104886193(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621871
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886193
ebirs104886193
HLIrs104886193
Exacrs104886193
Varsomers104886193
Maprs104886193
PheGenIrs104886193
hapmaprs104886193
1000 genomesrs104886193
hgdprs104886193
ensemblrs104886193
gopubmedrs104886193
geneviewrs104886193
scholarrs104886193
googlers104886193
pharmgkbrs104886193
gwascentralrs104886193
openSNPrs104886193
23andMers104886193
23andMe allrs104886193
SNP Nexus

SNPshotrs104886193
SNPdbers104886193
MSV3drs104886193
GWAS Ctlgrs104886193
Max Magnitude0
ClinVar
Risk rs104886193(G;G)
Alt rs104886193(G;G)
Reference rs104886193(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865101A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021440.1,


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

OMIM301050
Desc
Variant
Relatedalso