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rs104886163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886163(A;A)
Make rs104886163(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108602982
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886163
ebirs104886163
HLIrs104886163
Exacrs104886163
Varsomers104886163
Maprs104886163
PheGenIrs104886163
hapmaprs104886163
1000 genomesrs104886163
hgdprs104886163
ensemblrs104886163
gopubmedrs104886163
geneviewrs104886163
scholarrs104886163
googlers104886163
pharmgkbrs104886163
gwascentralrs104886163
openSNPrs104886163
23andMers104886163
23andMe allrs104886163
SNP Nexus

SNPshotrs104886163
SNPdbers104886163
MSV3drs104886163
GWAS Ctlgrs104886163
Max Magnitude0
ClinVar
Risk rs104886163(A;A)
Alt rs104886163(A;A)
Reference rs104886163(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846212G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021373.1,


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

OMIM301050
Desc
Variant
Relatedalso