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rs104886196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886196(G;T)
Make rs104886196(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108622729
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886196
ebirs104886196
HLIrs104886196
Exacrs104886196
Varsomers104886196
Maprs104886196
PheGenIrs104886196
hapmaprs104886196
1000 genomesrs104886196
hgdprs104886196
ensemblrs104886196
gopubmedrs104886196
geneviewrs104886196
scholarrs104886196
googlers104886196
pharmgkbrs104886196
gwascentralrs104886196
openSNPrs104886196
23andMers104886196
23andMe allrs104886196
SNP Nexus

SNPshotrs104886196
SNPdbers104886196
MSV3drs104886196
GWAS Ctlgrs104886196
Max Magnitude0
ClinVar
Risk rs104886196(T;T)
Alt rs104886196(T;T)
Reference rs104886196(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107865959G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021447.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso