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rs104886438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886438(-;-)
Make rs104886438(-;G)
Make rs104886438(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578080
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886438
ebirs104886438
HLIrs104886438
Exacrs104886438
Varsomers104886438
Maprs104886438
PheGenIrs104886438
hapmaprs104886438
1000 genomesrs104886438
hgdprs104886438
ensemblrs104886438
gopubmedrs104886438
geneviewrs104886438
scholarrs104886438
googlers104886438
pharmgkbrs104886438
gwascentralrs104886438
openSNPrs104886438
23andMers104886438
23andMe allrs104886438
SNP Nexus

SNPshotrs104886438
SNPdbers104886438
MSV3drs104886438
GWAS Ctlgrs104886438
Max Magnitude0
ClinVar
Risk rs104886438(AG,AGG;AG,AGG)
Alt rs104886438(AG,AGG;AG,AGG)
Reference rs104886438(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821309_107821310dupGG; NC_000023.10:g.107821310dupG
CLNSRC ClinVar
CLNACC RCV000021187.1, RCV000021188.1,


OMIM301050
Desc
Variant
Relatedalso

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