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rs104886255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886255(G;T)
Make rs104886255(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108668435
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886255
dbSNP (old)rs104886255
ClinGenrs104886255
ebirs104886255
HLIrs104886255
Exacrs104886255
Gnomadrs104886255
Varsomers104886255
Maprs104886255
PheGenIrs104886255
Biobankrs104886255
1000 genomesrs104886255
hgdprs104886255
ensemblrs104886255
gopubmedrs104886255
geneviewrs104886255
scholarrs104886255
googlers104886255
pharmgkbrs104886255
gwascentralrs104886255
openSNPrs104886255
23andMers104886255
23andMe allrs104886255
SNP Nexus

SNPshotrs104886255
SNPdbers104886255
MSV3drs104886255
GWAS Ctlgrs104886255
Max Magnitude0
ClinVar
Risk rs104886255(T;T)
Alt rs104886255(T;T)
Reference Rs104886255(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107911665G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000021555.1,


[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM301050
Desc
Variant
Relatedalso