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rs104886116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886116(A;A)
Make rs104886116(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591635
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886116
ebirs104886116
HLIrs104886116
Exacrs104886116
Varsomers104886116
Maprs104886116
PheGenIrs104886116
hapmaprs104886116
1000 genomesrs104886116
hgdprs104886116
ensemblrs104886116
gopubmedrs104886116
geneviewrs104886116
scholarrs104886116
googlers104886116
pharmgkbrs104886116
gwascentralrs104886116
openSNPrs104886116
23andMers104886116
23andMe allrs104886116
SNP Nexus

SNPshotrs104886116
SNPdbers104886116
MSV3drs104886116
GWAS Ctlgrs104886116
Max Magnitude0
ClinVar
Risk rs104886116(A;A)
Alt rs104886116(A;A)
Reference rs104886116(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834865G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021287.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso