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rs104886413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886413(C;C)
Make rs104886413(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108687695
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886413
ebirs104886413
HLIrs104886413
Exacrs104886413
Varsomers104886413
Maprs104886413
PheGenIrs104886413
hapmaprs104886413
1000 genomesrs104886413
hgdprs104886413
ensemblrs104886413
gopubmedrs104886413
geneviewrs104886413
scholarrs104886413
googlers104886413
pharmgkbrs104886413
gwascentralrs104886413
openSNPrs104886413
23andMers104886413
23andMe allrs104886413
SNP Nexus

SNPshotrs104886413
SNPdbers104886413
MSV3drs104886413
GWAS Ctlgrs104886413
Max Magnitude0
ClinVar
Risk rs104886413(C;C)
Alt rs104886413(C;C)
Reference rs104886413(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107930925G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021624.1,


[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

OMIM301050
Desc
Variant
Relatedalso