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rs104886453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886453(A;G)
Make rs104886453(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580981
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886453
ebirs104886453
HLIrs104886453
Exacrs104886453
Varsomers104886453
Maprs104886453
PheGenIrs104886453
hapmaprs104886453
1000 genomesrs104886453
hgdprs104886453
ensemblrs104886453
gopubmedrs104886453
geneviewrs104886453
scholarrs104886453
googlers104886453
pharmgkbrs104886453
gwascentralrs104886453
openSNPrs104886453
23andMers104886453
23andMe allrs104886453
SNP Nexus

SNPshotrs104886453
SNPdbers104886453
MSV3drs104886453
GWAS Ctlgrs104886453
Max Magnitude0
ClinVar
Risk rs104886453(G;G)
Alt rs104886453(G;G)
Reference rs104886453(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107824211A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021216.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 9195222] The clinical spectrum of type IV collagen mutations.