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rs104886178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886178(-;-)
Make rs104886178(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606894
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886178
ebirs104886178
HLIrs104886178
Exacrs104886178
Varsomers104886178
Maprs104886178
PheGenIrs104886178
hapmaprs104886178
1000 genomesrs104886178
hgdprs104886178
ensemblrs104886178
gopubmedrs104886178
geneviewrs104886178
scholarrs104886178
googlers104886178
pharmgkbrs104886178
gwascentralrs104886178
openSNPrs104886178
23andMers104886178
23andMe allrs104886178
SNP Nexus

SNPshotrs104886178
SNPdbers104886178
MSV3drs104886178
GWAS Ctlgrs104886178
Max Magnitude0
ClinVar
Risk rs104886178(;)
Alt rs104886178(;)
Reference rs104886178(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850124delT
CLNSRC ARUP COL4A5
CLNACC RCV000021394.1,


[PMID 8651296OA-icon.png] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

OMIM301050
Desc
Variant
Relatedalso