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rs104886378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886378(A;A)
Make rs104886378(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108625704
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886378
ebirs104886378
HLIrs104886378
Exacrs104886378
Varsomers104886378
Maprs104886378
PheGenIrs104886378
hapmaprs104886378
1000 genomesrs104886378
hgdprs104886378
ensemblrs104886378
gopubmedrs104886378
geneviewrs104886378
scholarrs104886378
googlers104886378
pharmgkbrs104886378
gwascentralrs104886378
openSNPrs104886378
23andMers104886378
23andMe allrs104886378
SNP Nexus

SNPshotrs104886378
SNPdbers104886378
MSV3drs104886378
GWAS Ctlgrs104886378
Max Magnitude0
ClinVar
Risk rs104886378(A;A)
Alt rs104886378(A;A)
Reference rs104886378(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107868934G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021463.1,


OMIM301050
Desc
Variant
Relatedalso

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.