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rs104886114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886114(A;A)
Make rs104886114(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591618
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886114
ebirs104886114
HLIrs104886114
Exacrs104886114
Varsomers104886114
Maprs104886114
PheGenIrs104886114
hapmaprs104886114
1000 genomesrs104886114
hgdprs104886114
ensemblrs104886114
gopubmedrs104886114
geneviewrs104886114
scholarrs104886114
googlers104886114
pharmgkbrs104886114
gwascentralrs104886114
openSNPrs104886114
23andMers104886114
23andMe allrs104886114
SNP Nexus

SNPshotrs104886114
SNPdbers104886114
MSV3drs104886114
GWAS Ctlgrs104886114
Max Magnitude0
ClinVar
Risk rs104886114(A;A)
Alt rs104886114(A;A)
Reference rs104886114(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834848G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021285.1,


[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

OMIM301050
Desc
Variant
Relatedalso