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rs104886120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886120(G;T)
Make rs104886120(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108595574
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886120
ebirs104886120
HLIrs104886120
Exacrs104886120
Varsomers104886120
Maprs104886120
PheGenIrs104886120
hapmaprs104886120
1000 genomesrs104886120
hgdprs104886120
ensemblrs104886120
gopubmedrs104886120
geneviewrs104886120
scholarrs104886120
googlers104886120
pharmgkbrs104886120
gwascentralrs104886120
openSNPrs104886120
23andMers104886120
23andMe allrs104886120
SNP Nexus

SNPshotrs104886120
SNPdbers104886120
MSV3drs104886120
GWAS Ctlgrs104886120
Max Magnitude0
ClinVar
Risk rs104886120(T;T)
Alt rs104886120(T;T)
Reference rs104886120(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107838804G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021297.1,


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

OMIM301050
Desc
Variant
Relatedalso