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rs104886095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886095(-;-)
Make rs104886095(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108586656
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886095
ebirs104886095
HLIrs104886095
Exacrs104886095
Varsomers104886095
Maprs104886095
PheGenIrs104886095
hapmaprs104886095
1000 genomesrs104886095
hgdprs104886095
ensemblrs104886095
gopubmedrs104886095
geneviewrs104886095
scholarrs104886095
googlers104886095
pharmgkbrs104886095
gwascentralrs104886095
openSNPrs104886095
23andMers104886095
23andMe allrs104886095
SNP Nexus

SNPshotrs104886095
SNPdbers104886095
MSV3drs104886095
GWAS Ctlgrs104886095
Max Magnitude0
ClinVar
Risk rs104886095(;)
Alt rs104886095(;)
Reference rs104886095(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107829886delA
CLNSRC ClinVar
CLNACC RCV000021241.1,


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

OMIM301050
Desc
Variant
Relatedalso