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rs104886115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886115(A;A)
Make rs104886115(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591627
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886115
ebirs104886115
HLIrs104886115
Exacrs104886115
Varsomers104886115
Maprs104886115
PheGenIrs104886115
hapmaprs104886115
1000 genomesrs104886115
hgdprs104886115
ensemblrs104886115
gopubmedrs104886115
geneviewrs104886115
scholarrs104886115
googlers104886115
pharmgkbrs104886115
gwascentralrs104886115
openSNPrs104886115
23andMers104886115
23andMe allrs104886115
SNP Nexus

SNPshotrs104886115
SNPdbers104886115
MSV3drs104886115
GWAS Ctlgrs104886115
Max Magnitude0
ClinVar
Risk rs104886115(A;A)
Alt rs104886115(A;A)
Reference rs104886115(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834857G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021286.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso