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rs104886122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886122(A;A)
Make rs104886122(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597043
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886122
ebirs104886122
HLIrs104886122
Exacrs104886122
Varsomers104886122
Maprs104886122
PheGenIrs104886122
hapmaprs104886122
1000 genomesrs104886122
hgdprs104886122
ensemblrs104886122
gopubmedrs104886122
geneviewrs104886122
scholarrs104886122
googlers104886122
pharmgkbrs104886122
gwascentralrs104886122
openSNPrs104886122
23andMers104886122
23andMe allrs104886122
SNP Nexus

SNPshotrs104886122
SNPdbers104886122
MSV3drs104886122
GWAS Ctlgrs104886122
Max Magnitude0
ClinVar
Risk rs104886122(A;A)
Alt rs104886122(A;A)
Reference rs104886122(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840273G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021301.1,


[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso