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rs104886281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886281(-;-)
Make rs104886281(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687621
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886281
ebirs104886281
HLIrs104886281
Exacrs104886281
Varsomers104886281
Maprs104886281
PheGenIrs104886281
hapmaprs104886281
1000 genomesrs104886281
hgdprs104886281
ensemblrs104886281
gopubmedrs104886281
geneviewrs104886281
scholarrs104886281
googlers104886281
pharmgkbrs104886281
gwascentralrs104886281
openSNPrs104886281
23andMers104886281
23andMe allrs104886281
SNP Nexus

SNPshotrs104886281
SNPdbers104886281
MSV3drs104886281
GWAS Ctlgrs104886281
Max Magnitude0
ClinVar
Risk rs104886281(;)
Alt rs104886281(;)
Reference rs104886281(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930851delA
CLNSRC ClinVar
CLNACC RCV000021617.1,


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

OMIM301050
Desc
Variant
Relatedalso