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rs104886396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886396(A;A)
Make rs104886396(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108570694
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886396
ebirs104886396
HLIrs104886396
Exacrs104886396
Varsomers104886396
Maprs104886396
PheGenIrs104886396
hapmaprs104886396
1000 genomesrs104886396
hgdprs104886396
ensemblrs104886396
gopubmedrs104886396
geneviewrs104886396
scholarrs104886396
googlers104886396
pharmgkbrs104886396
gwascentralrs104886396
openSNPrs104886396
23andMers104886396
23andMe allrs104886396
SNP Nexus

SNPshotrs104886396
SNPdbers104886396
MSV3drs104886396
GWAS Ctlgrs104886396
Max Magnitude0
ClinVar
Risk rs104886396(A;A)
Alt rs104886396(A;A)
Reference rs104886396(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107813924G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021141.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 12436246] Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.