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rs104886081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886081(G;T)
Make rs104886081(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108581004
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886081
ebirs104886081
HLIrs104886081
Exacrs104886081
Varsomers104886081
Maprs104886081
PheGenIrs104886081
hapmaprs104886081
1000 genomesrs104886081
hgdprs104886081
ensemblrs104886081
gopubmedrs104886081
geneviewrs104886081
scholarrs104886081
googlers104886081
pharmgkbrs104886081
gwascentralrs104886081
openSNPrs104886081
23andMers104886081
23andMe allrs104886081
SNP Nexus

SNPshotrs104886081
SNPdbers104886081
MSV3drs104886081
GWAS Ctlgrs104886081
Max Magnitude0
ClinVar
Risk rs104886081(T;T)
Alt rs104886081(T;T)
Reference rs104886081(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107824234G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021219.1,


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

OMIM301050
Desc
Variant
Relatedalso