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rs104886242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886242(C;C)
Make rs104886242(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666585
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886242
ebirs104886242
HLIrs104886242
Exacrs104886242
Varsomers104886242
Maprs104886242
PheGenIrs104886242
hapmaprs104886242
1000 genomesrs104886242
hgdprs104886242
ensemblrs104886242
gopubmedrs104886242
geneviewrs104886242
scholarrs104886242
googlers104886242
pharmgkbrs104886242
gwascentralrs104886242
openSNPrs104886242
23andMers104886242
23andMe allrs104886242
SNP Nexus

SNPshotrs104886242
SNPdbers104886242
MSV3drs104886242
GWAS Ctlgrs104886242
Max Magnitude0
ClinVar
Risk rs104886242(C;C)
Alt rs104886242(C;C)
Reference rs104886242(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909815G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021524.1,


OMIM301050
Desc
Variant
Relatedalso

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