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rs104886046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886046(-;-)
Make rs104886046(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108568805
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886046
ebirs104886046
HLIrs104886046
Exacrs104886046
Varsomers104886046
Maprs104886046
PheGenIrs104886046
hapmaprs104886046
1000 genomesrs104886046
hgdprs104886046
ensemblrs104886046
gopubmedrs104886046
geneviewrs104886046
scholarrs104886046
googlers104886046
pharmgkbrs104886046
gwascentralrs104886046
openSNPrs104886046
23andMers104886046
23andMe allrs104886046
SNP Nexus

SNPshotrs104886046
SNPdbers104886046
MSV3drs104886046
GWAS Ctlgrs104886046
Max Magnitude0
ClinVar
Risk rs104886046(;)
Alt rs104886046(;)
Reference rs104886046(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107812035delG
CLNSRC ClinVar
CLNACC RCV000021140.1,


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

OMIM301050
Desc
Variant
Relatedalso