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rs104886426

From SNPedia

Orientationplus
Geno Mag Summary
(GAAACGCT;GAAACGCT) 0 common in clinvar
Make rs104886426(-;-)
Make rs104886426(-;CGCTGAAA)
Make rs104886426(CGCTGAAA;CGCTGAAA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position108696314
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886426
ebirs104886426
HLIrs104886426
Exacrs104886426
Varsomers104886426
Maprs104886426
PheGenIrs104886426
hapmaprs104886426
1000 genomesrs104886426
hgdprs104886426
ensemblrs104886426
gopubmedrs104886426
geneviewrs104886426
scholarrs104886426
googlers104886426
pharmgkbrs104886426
gwascentralrs104886426
openSNPrs104886426
23andMers104886426
23andMe allrs104886426
SNP Nexus

SNPshotrs104886426
SNPdbers104886426
MSV3drs104886426
GWAS Ctlgrs104886426
Max Magnitude0
ClinVar
Risk rs104886426(;)
Alt rs104886426(;)
Reference rs104886426(GAAACGCT;GAAACGCT)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107939544_107939551delCGCTGAAA
CLNSRC
CLNACC RCV000021664.1,