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rs104886418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104886418(-;-)
Make rs104886418(-;T)
Make rs104886418(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687510
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886418
ebirs104886418
HLIrs104886418
Exacrs104886418
Varsomers104886418
Maprs104886418
PheGenIrs104886418
hapmaprs104886418
1000 genomesrs104886418
hgdprs104886418
ensemblrs104886418
gopubmedrs104886418
geneviewrs104886418
scholarrs104886418
googlers104886418
pharmgkbrs104886418
gwascentralrs104886418
openSNPrs104886418
23andMers104886418
23andMe allrs104886418
SNP Nexus

SNPshotrs104886418
SNPdbers104886418
MSV3drs104886418
GWAS Ctlgrs104886418
Max Magnitude0
ClinVar
Risk rs104886418(T;T)
Alt rs104886418(T;T)
Reference rs104886418(;)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930758dupT
CLNSRC ClinVar
CLNACC RCV000021614.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso