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rs104886073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886073(C;C)
Make rs104886073(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580721
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886073
ebirs104886073
HLIrs104886073
Exacrs104886073
Varsomers104886073
Maprs104886073
PheGenIrs104886073
hapmaprs104886073
1000 genomesrs104886073
hgdprs104886073
ensemblrs104886073
gopubmedrs104886073
geneviewrs104886073
scholarrs104886073
googlers104886073
pharmgkbrs104886073
gwascentralrs104886073
openSNPrs104886073
23andMers104886073
23andMe allrs104886073
SNP Nexus

SNPshotrs104886073
SNPdbers104886073
MSV3drs104886073
GWAS Ctlgrs104886073
Max Magnitude0
ClinVar
Risk rs104886073(C;C)
Alt rs104886073(C;C)
Reference rs104886073(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823951G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021211.1,


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

OMIM301050
Desc
Variant
Relatedalso