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rs104886419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886419(-;-)
Make rs104886419(-;C)
Make rs104886419(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571813
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886419
ebirs104886419
HLIrs104886419
Exacrs104886419
Varsomers104886419
Maprs104886419
PheGenIrs104886419
hapmaprs104886419
1000 genomesrs104886419
hgdprs104886419
ensemblrs104886419
gopubmedrs104886419
geneviewrs104886419
scholarrs104886419
googlers104886419
pharmgkbrs104886419
gwascentralrs104886419
openSNPrs104886419
23andMers104886419
23andMe allrs104886419
SNP Nexus

SNPshotrs104886419
SNPdbers104886419
MSV3drs104886419
GWAS Ctlgrs104886419
Max Magnitude0
ClinVar
Risk rs104886419(C;C)
Alt rs104886419(C;C)
Reference rs104886419(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107815044dupC
CLNSRC ClinVar
CLNACC RCV000021151.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso