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rs104886440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886440(A;A)
Make rs104886440(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578120
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886440
ebirs104886440
HLIrs104886440
Exacrs104886440
Varsomers104886440
Maprs104886440
PheGenIrs104886440
hapmaprs104886440
1000 genomesrs104886440
hgdprs104886440
ensemblrs104886440
gopubmedrs104886440
geneviewrs104886440
scholarrs104886440
googlers104886440
pharmgkbrs104886440
gwascentralrs104886440
openSNPrs104886440
23andMers104886440
23andMe allrs104886440
SNP Nexus

SNPshotrs104886440
SNPdbers104886440
MSV3drs104886440
GWAS Ctlgrs104886440
Max Magnitude0
ClinVar
Risk rs104886440(A;A)
Alt rs104886440(A;A)
Reference rs104886440(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821350G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021190.1,


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

OMIM301050
Desc
Variant
Relatedalso