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rs104886144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886144(A;A)
Make rs104886144(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108598808
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886144
ebirs104886144
HLIrs104886144
Exacrs104886144
Varsomers104886144
Maprs104886144
PheGenIrs104886144
hapmaprs104886144
1000 genomesrs104886144
hgdprs104886144
ensemblrs104886144
gopubmedrs104886144
geneviewrs104886144
scholarrs104886144
googlers104886144
pharmgkbrs104886144
gwascentralrs104886144
openSNPrs104886144
23andMers104886144
23andMe allrs104886144
SNP Nexus

SNPshotrs104886144
SNPdbers104886144
MSV3drs104886144
GWAS Ctlgrs104886144
Max Magnitude0
ClinVar
Risk rs104886144(A;A)
Alt rs104886144(A;A)
Reference rs104886144(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107842038G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021336.1,


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

OMIM301050
Desc
Variant
Relatedalso