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rs104886237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886237(A;A)
Make rs104886237(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108666549
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886237
ebirs104886237
HLIrs104886237
Exacrs104886237
Varsomers104886237
Maprs104886237
PheGenIrs104886237
hapmaprs104886237
1000 genomesrs104886237
hgdprs104886237
ensemblrs104886237
gopubmedrs104886237
geneviewrs104886237
scholarrs104886237
googlers104886237
pharmgkbrs104886237
gwascentralrs104886237
openSNPrs104886237
23andMers104886237
23andMe allrs104886237
SNP Nexus

SNPshotrs104886237
SNPdbers104886237
MSV3drs104886237
GWAS Ctlgrs104886237
Max Magnitude0
ClinVar
Risk rs104886237(A;A)
Alt rs104886237(A;A)
Reference rs104886237(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107909779G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021517.1,


[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.

OMIM301050
Desc
Variant
Relatedalso