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rs104886158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886158(A;A)
Make rs104886158(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108601885
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886158
ebirs104886158
HLIrs104886158
Exacrs104886158
Varsomers104886158
Maprs104886158
PheGenIrs104886158
hapmaprs104886158
1000 genomesrs104886158
hgdprs104886158
ensemblrs104886158
gopubmedrs104886158
geneviewrs104886158
scholarrs104886158
googlers104886158
pharmgkbrs104886158
gwascentralrs104886158
openSNPrs104886158
23andMers104886158
23andMe allrs104886158
SNP Nexus

SNPshotrs104886158
SNPdbers104886158
MSV3drs104886158
GWAS Ctlgrs104886158
Max Magnitude0
ClinVar
Risk rs104886158(A;A)
Alt rs104886158(A;A)
Reference rs104886158(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107845115G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021357.1,


[PMID 8940267OA-icon.png] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso