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rs104886192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104886192(A;G)
Make rs104886192(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108621817
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886192
ebirs104886192
HLIrs104886192
Exacrs104886192
Varsomers104886192
Maprs104886192
PheGenIrs104886192
hapmaprs104886192
1000 genomesrs104886192
hgdprs104886192
ensemblrs104886192
gopubmedrs104886192
geneviewrs104886192
scholarrs104886192
googlers104886192
pharmgkbrs104886192
gwascentralrs104886192
openSNPrs104886192
23andMers104886192
23andMe allrs104886192
SNP Nexus

SNPshotrs104886192
SNPdbers104886192
MSV3drs104886192
GWAS Ctlgrs104886192
Max Magnitude0
ClinVar
Risk rs104886192(G;G)
Alt rs104886192(G;G)
Reference rs104886192(A;A)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865047A>G
CLNSRC ARUP COL4A5
CLNACC RCV000021433.1,


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

OMIM301050
Desc
Variant
Relatedalso