Have questions? Visit https://www.reddit.com/r/SNPedia

rs104886183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886183(G;T)
Make rs104886183(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108614947
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886183
ebirs104886183
HLIrs104886183
Exacrs104886183
Varsomers104886183
Maprs104886183
PheGenIrs104886183
hapmaprs104886183
1000 genomesrs104886183
hgdprs104886183
ensemblrs104886183
gopubmedrs104886183
geneviewrs104886183
scholarrs104886183
googlers104886183
pharmgkbrs104886183
gwascentralrs104886183
openSNPrs104886183
23andMers104886183
23andMe allrs104886183
SNP Nexus

SNPshotrs104886183
SNPdbers104886183
MSV3drs104886183
GWAS Ctlgrs104886183
Max Magnitude0
ClinVar
Risk rs104886183(T;T)
Alt rs104886183(T;T)
Reference rs104886183(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107858177G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021400.1,


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

OMIM301050
Desc
Variant
Relatedalso