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rs104886287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886287(A;A)
Make rs104886287(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108694809
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886287
ebirs104886287
HLIrs104886287
Exacrs104886287
Varsomers104886287
Maprs104886287
PheGenIrs104886287
hapmaprs104886287
1000 genomesrs104886287
hgdprs104886287
ensemblrs104886287
gopubmedrs104886287
geneviewrs104886287
scholarrs104886287
googlers104886287
pharmgkbrs104886287
gwascentralrs104886287
openSNPrs104886287
23andMers104886287
23andMe allrs104886287
SNP Nexus

SNPshotrs104886287
SNPdbers104886287
MSV3drs104886287
GWAS Ctlgrs104886287
Max Magnitude0
OMIM303630
Desc
Variant0002
Relatedalso
OMIM301050
Desc
Variant
Relatedalso
ClinVar
Risk rs104886287(A,C;A,C)
Alt rs104886287(A,C;A,C)
Reference rs104886287(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107938039G>C
CLNSRC ARUP COL4A5
CLNACC RCV000021640.2,


[PMID 1672282] Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.