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rs104886349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886349(A;A)
Make rs104886349(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108559154
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886349
ebirs104886349
HLIrs104886349
Exacrs104886349
Varsomers104886349
Maprs104886349
PheGenIrs104886349
hapmaprs104886349
1000 genomesrs104886349
hgdprs104886349
ensemblrs104886349
gopubmedrs104886349
geneviewrs104886349
scholarrs104886349
googlers104886349
pharmgkbrs104886349
gwascentralrs104886349
openSNPrs104886349
23andMers104886349
23andMe allrs104886349
SNP Nexus

SNPshotrs104886349
SNPdbers104886349
MSV3drs104886349
GWAS Ctlgrs104886349
Max Magnitude0
ClinVar
Risk rs104886349(A;A)
Alt rs104886349(A;A)
Reference rs104886349(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107802384G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021126.1,


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

OMIM301050
Desc
Variant
Relatedalso