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rs104886450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886450(G;T)
Make rs104886450(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108580713
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886450
ebirs104886450
HLIrs104886450
Exacrs104886450
Varsomers104886450
Maprs104886450
PheGenIrs104886450
hapmaprs104886450
1000 genomesrs104886450
hgdprs104886450
ensemblrs104886450
gopubmedrs104886450
geneviewrs104886450
scholarrs104886450
googlers104886450
pharmgkbrs104886450
gwascentralrs104886450
openSNPrs104886450
23andMers104886450
23andMe allrs104886450
SNP Nexus

SNPshotrs104886450
SNPdbers104886450
MSV3drs104886450
GWAS Ctlgrs104886450
Max Magnitude0
ClinVar
Risk rs104886450(T;T)
Alt rs104886450(T;T)
Reference rs104886450(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107823943G>T
CLNSRC ARUP COL4A5 OMIM Allelic Variant
CLNACC RCV000011210.4, RCV000021208.1,


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

OMIM301050
Desc
Variant
Relatedalso