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rs104886307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886307(-;-)
Make rs104886307(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108696354
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886307
ebirs104886307
HLIrs104886307
Exacrs104886307
Varsomers104886307
Maprs104886307
PheGenIrs104886307
hapmaprs104886307
1000 genomesrs104886307
hgdprs104886307
ensemblrs104886307
gopubmedrs104886307
geneviewrs104886307
scholarrs104886307
googlers104886307
pharmgkbrs104886307
gwascentralrs104886307
openSNPrs104886307
23andMers104886307
23andMe allrs104886307
SNP Nexus

SNPshotrs104886307
SNPdbers104886307
MSV3drs104886307
GWAS Ctlgrs104886307
Max Magnitude0
ClinVar
Risk rs104886307(;)
Alt rs104886307(;)
Reference rs104886307(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939584delT
CLNSRC ClinVar
CLNACC RCV000021670.1,


[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.

OMIM301050
Desc
Variant
Relatedalso