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rs104886150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886150(A;A)
Make rs104886150(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601401
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886150
ebirs104886150
HLIrs104886150
Exacrs104886150
Varsomers104886150
Maprs104886150
PheGenIrs104886150
hapmaprs104886150
1000 genomesrs104886150
hgdprs104886150
ensemblrs104886150
gopubmedrs104886150
geneviewrs104886150
scholarrs104886150
googlers104886150
pharmgkbrs104886150
gwascentralrs104886150
openSNPrs104886150
23andMers104886150
23andMe allrs104886150
SNP Nexus

SNPshotrs104886150
SNPdbers104886150
MSV3drs104886150
GWAS Ctlgrs104886150
Max Magnitude0
ClinVar
Risk rs104886150(A;A)
Alt rs104886150(A;A)
Reference rs104886150(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107844631G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021346.1,


[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso