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rs104886347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886347(G;G)
Make rs104886347(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108603063
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886347
ebirs104886347
HLIrs104886347
Exacrs104886347
Varsomers104886347
Maprs104886347
PheGenIrs104886347
hapmaprs104886347
1000 genomesrs104886347
hgdprs104886347
ensemblrs104886347
gopubmedrs104886347
geneviewrs104886347
scholarrs104886347
googlers104886347
pharmgkbrs104886347
gwascentralrs104886347
openSNPrs104886347
23andMers104886347
23andMe allrs104886347
SNP Nexus

SNPshotrs104886347
SNPdbers104886347
MSV3drs104886347
GWAS Ctlgrs104886347
Max Magnitude0
ClinVar
Risk rs104886347(G;G)
Alt rs104886347(G;G)
Reference rs104886347(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846293T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021379.1,


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

OMIM301050
Desc
Variant
Relatedalso