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rs104886201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886201(G;T)
Make rs104886201(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108620409
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886201
ebirs104886201
HLIrs104886201
Exacrs104886201
Varsomers104886201
Maprs104886201
PheGenIrs104886201
hapmaprs104886201
1000 genomesrs104886201
hgdprs104886201
ensemblrs104886201
gopubmedrs104886201
geneviewrs104886201
scholarrs104886201
googlers104886201
pharmgkbrs104886201
gwascentralrs104886201
openSNPrs104886201
23andMers104886201
23andMe allrs104886201
SNP Nexus

SNPshotrs104886201
SNPdbers104886201
MSV3drs104886201
GWAS Ctlgrs104886201
Max Magnitude0
ClinVar
Risk rs104886201(T;T)
Alt rs104886201(T;T)
Reference rs104886201(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107863639G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021428.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso