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rs104886414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886414(A;A)
Make rs104886414(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108573562
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886414
ebirs104886414
HLIrs104886414
Exacrs104886414
Varsomers104886414
Maprs104886414
PheGenIrs104886414
hapmaprs104886414
1000 genomesrs104886414
hgdprs104886414
ensemblrs104886414
gopubmedrs104886414
geneviewrs104886414
scholarrs104886414
googlers104886414
pharmgkbrs104886414
gwascentralrs104886414
openSNPrs104886414
23andMers104886414
23andMe allrs104886414
SNP Nexus

SNPshotrs104886414
SNPdbers104886414
MSV3drs104886414
GWAS Ctlgrs104886414
Max Magnitude0
ClinVar
Risk rs104886414(A;A)
Alt rs104886414(A;A)
Reference rs104886414(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107816792G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021154.1,


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

OMIM301050
Desc
Variant
Relatedalso