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rs104886136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886136(A;A)
Make rs104886136(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597470
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886136
ebirs104886136
HLIrs104886136
Exacrs104886136
Varsomers104886136
Maprs104886136
PheGenIrs104886136
hapmaprs104886136
1000 genomesrs104886136
hgdprs104886136
ensemblrs104886136
gopubmedrs104886136
geneviewrs104886136
scholarrs104886136
googlers104886136
pharmgkbrs104886136
gwascentralrs104886136
openSNPrs104886136
23andMers104886136
23andMe allrs104886136
SNP Nexus

SNPshotrs104886136
SNPdbers104886136
MSV3drs104886136
GWAS Ctlgrs104886136
Max Magnitude0
ClinVar
Risk rs104886136(A;A)
Alt rs104886136(A;A)
Reference rs104886136(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840700G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021314.1,


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

OMIM301050
Desc
Variant
Relatedalso