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rs104886100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886100(G;T)
Make rs104886100(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108591109
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886100
ebirs104886100
HLIrs104886100
Exacrs104886100
Varsomers104886100
Maprs104886100
PheGenIrs104886100
hapmaprs104886100
1000 genomesrs104886100
hgdprs104886100
ensemblrs104886100
gopubmedrs104886100
geneviewrs104886100
scholarrs104886100
googlers104886100
pharmgkbrs104886100
gwascentralrs104886100
openSNPrs104886100
23andMers104886100
23andMe allrs104886100
SNP Nexus

SNPshotrs104886100
SNPdbers104886100
MSV3drs104886100
GWAS Ctlgrs104886100
Max Magnitude0
ClinVar
Risk rs104886100(T;T)
Alt rs104886100(T;T)
Reference rs104886100(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107834339G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021262.1,


[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