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rs104886344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886344(A;G)
Make rs104886344(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108602962
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886344
ebirs104886344
HLIrs104886344
Exacrs104886344
Varsomers104886344
Maprs104886344
PheGenIrs104886344
hapmaprs104886344
1000 genomesrs104886344
hgdprs104886344
ensemblrs104886344
gopubmedrs104886344
geneviewrs104886344
scholarrs104886344
googlers104886344
pharmgkbrs104886344
gwascentralrs104886344
openSNPrs104886344
23andMers104886344
23andMe allrs104886344
SNP Nexus

SNPshotrs104886344
SNPdbers104886344
MSV3drs104886344
GWAS Ctlgrs104886344
Max Magnitude0
ClinVar
Risk rs104886344(G;G)
Alt rs104886344(G;G)
Reference rs104886344(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107846192A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021369.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso