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rs104886253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886253(A;A)
Make rs104886253(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668400
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886253
ebirs104886253
HLIrs104886253
Exacrs104886253
Varsomers104886253
Maprs104886253
PheGenIrs104886253
hapmaprs104886253
1000 genomesrs104886253
hgdprs104886253
ensemblrs104886253
gopubmedrs104886253
geneviewrs104886253
scholarrs104886253
googlers104886253
pharmgkbrs104886253
gwascentralrs104886253
openSNPrs104886253
23andMers104886253
23andMe allrs104886253
SNP Nexus

SNPshotrs104886253
SNPdbers104886253
MSV3drs104886253
GWAS Ctlgrs104886253
Max Magnitude0
ClinVar
Risk rs104886253(A;A)
Alt rs104886253(A;A)
Reference rs104886253(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911630G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021547.1,


[PMID 10684360] Mutational analysis of COL4A5 gene in Korean Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso