Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886213(C;T)
Make rs104886213(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108626284
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886213
ebirs104886213
HLIrs104886213
Exacrs104886213
Varsomers104886213
Maprs104886213
PheGenIrs104886213
hapmaprs104886213
1000 genomesrs104886213
hgdprs104886213
ensemblrs104886213
gopubmedrs104886213
geneviewrs104886213
scholarrs104886213
googlers104886213
pharmgkbrs104886213
gwascentralrs104886213
openSNPrs104886213
23andMers104886213
23andMe allrs104886213
SNP Nexus

SNPshotrs104886213
SNPdbers104886213
MSV3drs104886213
GWAS Ctlgrs104886213
Max Magnitude0
ClinVar
Risk rs104886213(T;T)
Alt rs104886213(T;T)
Reference rs104886213(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107869514C>T
CLNSRC ARUP COL4A5
CLNACC RCV000021479.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso