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rs104886338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886338(A;A)
Make rs104886338(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598701
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886338
ebirs104886338
HLIrs104886338
Exacrs104886338
Varsomers104886338
Maprs104886338
PheGenIrs104886338
hapmaprs104886338
1000 genomesrs104886338
hgdprs104886338
ensemblrs104886338
gopubmedrs104886338
geneviewrs104886338
scholarrs104886338
googlers104886338
pharmgkbrs104886338
gwascentralrs104886338
openSNPrs104886338
23andMers104886338
23andMe allrs104886338
SNP Nexus

SNPshotrs104886338
SNPdbers104886338
MSV3drs104886338
GWAS Ctlgrs104886338
Max Magnitude0
ClinVar
Risk rs104886338(A,T;A,T)
Alt rs104886338(A,T;A,T)
Reference rs104886338(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107841931G>A; NC_000023.10:g.107841931G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021326.1, RCV000207547.1,


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

OMIM301050
Desc
Variant
Relatedalso