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rs104886161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886161(C;C)
Make rs104886161(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601989
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886161
ebirs104886161
HLIrs104886161
Exacrs104886161
Varsomers104886161
Maprs104886161
PheGenIrs104886161
hapmaprs104886161
1000 genomesrs104886161
hgdprs104886161
ensemblrs104886161
gopubmedrs104886161
geneviewrs104886161
scholarrs104886161
googlers104886161
pharmgkbrs104886161
gwascentralrs104886161
openSNPrs104886161
23andMers104886161
23andMe allrs104886161
SNP Nexus

SNPshotrs104886161
SNPdbers104886161
MSV3drs104886161
GWAS Ctlgrs104886161
Max Magnitude0
ClinVar
Risk rs104886161(C;C)
Alt rs104886161(C;C)
Reference rs104886161(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845219G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021366.1,


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

OMIM301050
Desc
Variant
Relatedalso