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rs104886168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886168(A;A)
Make rs104886168(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601903
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886168
ebirs104886168
HLIrs104886168
Exacrs104886168
Varsomers104886168
Maprs104886168
PheGenIrs104886168
hapmaprs104886168
1000 genomesrs104886168
hgdprs104886168
ensemblrs104886168
gopubmedrs104886168
geneviewrs104886168
scholarrs104886168
googlers104886168
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openSNPrs104886168
23andMers104886168
23andMe allrs104886168
SNP Nexus

SNPshotrs104886168
SNPdbers104886168
MSV3drs104886168
GWAS Ctlgrs104886168
Max Magnitude0
ClinVar
Risk rs104886168(A;A)
Alt rs104886168(A;A)
Reference rs104886168(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845133G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021362.1,


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

OMIM301050
Desc
Variant
Relatedalso