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rs104886109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104886109(-;-)
Make rs104886109(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591157
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886109
ebirs104886109
HLIrs104886109
Exacrs104886109
Varsomers104886109
Maprs104886109
PheGenIrs104886109
hapmaprs104886109
1000 genomesrs104886109
hgdprs104886109
ensemblrs104886109
gopubmedrs104886109
geneviewrs104886109
scholarrs104886109
googlers104886109
pharmgkbrs104886109
gwascentralrs104886109
openSNPrs104886109
23andMers104886109
23andMe allrs104886109
SNP Nexus

SNPshotrs104886109
SNPdbers104886109
MSV3drs104886109
GWAS Ctlgrs104886109
Max Magnitude0
ClinVar
Risk rs104886109(;)
Alt rs104886109(;)
Reference rs104886109(C;C)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834387delC
CLNSRC ClinVar
CLNACC RCV000021270.1,


OMIM301050
Desc
Variant
Relatedalso
[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.