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rs104886250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886250(A;A)
Make rs104886250(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668408
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886250
ebirs104886250
HLIrs104886250
Exacrs104886250
Varsomers104886250
Maprs104886250
PheGenIrs104886250
hapmaprs104886250
1000 genomesrs104886250
hgdprs104886250
ensemblrs104886250
gopubmedrs104886250
geneviewrs104886250
scholarrs104886250
googlers104886250
pharmgkbrs104886250
gwascentralrs104886250
openSNPrs104886250
23andMers104886250
23andMe allrs104886250
SNP Nexus

SNPshotrs104886250
SNPdbers104886250
MSV3drs104886250
GWAS Ctlgrs104886250
Max Magnitude0
ClinVar
Risk rs104886250(A;A)
Alt rs104886250(A;A)
Reference rs104886250(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911638G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021550.1,


[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

OMIM301050
Desc
Variant
Relatedalso