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rs104886171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886171(A;A)
Make rs104886171(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606784
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886171
ebirs104886171
HLIrs104886171
Exacrs104886171
Varsomers104886171
Maprs104886171
PheGenIrs104886171
hapmaprs104886171
1000 genomesrs104886171
hgdprs104886171
ensemblrs104886171
gopubmedrs104886171
geneviewrs104886171
scholarrs104886171
googlers104886171
pharmgkbrs104886171
gwascentralrs104886171
openSNPrs104886171
23andMers104886171
23andMe allrs104886171
SNP Nexus

SNPshotrs104886171
SNPdbers104886171
MSV3drs104886171
GWAS Ctlgrs104886171
Max Magnitude0
ClinVar
Risk rs104886171(A;A)
Alt rs104886171(A;A)
Reference rs104886171(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850014G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021381.1,


[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso