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rs104886444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104886444(G;G)
Make rs104886444(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108578385
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886444
ebirs104886444
HLIrs104886444
Exacrs104886444
Varsomers104886444
Maprs104886444
PheGenIrs104886444
hapmaprs104886444
1000 genomesrs104886444
hgdprs104886444
ensemblrs104886444
gopubmedrs104886444
geneviewrs104886444
scholarrs104886444
googlers104886444
pharmgkbrs104886444
gwascentralrs104886444
openSNPrs104886444
23andMers104886444
23andMe allrs104886444
SNP Nexus

SNPshotrs104886444
SNPdbers104886444
MSV3drs104886444
GWAS Ctlgrs104886444
Max Magnitude0
ClinVar
Risk rs104886444(G;G)
Alt rs104886444(G;G)
Reference rs104886444(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107821615T>G
CLNSRC ARUP COL4A5
CLNACC RCV000021197.1,


[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

OMIM301050
Desc
Variant
Relatedalso