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rs281874678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTCCTGGCCCGAAA;TTCCTGGCCCGAAA) 0 common in clinvar
Make rs281874678(-;-)
Make rs281874678(-;TTCCTGGCCCGAAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108597546
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874678
ebirs281874678
HLIrs281874678
Exacrs281874678
Varsomers281874678
Maprs281874678
PheGenIrs281874678
hapmaprs281874678
1000 genomesrs281874678
hgdprs281874678
ensemblrs281874678
gopubmedrs281874678
geneviewrs281874678
scholarrs281874678
googlers281874678
pharmgkbrs281874678
gwascentralrs281874678
openSNPrs281874678
23andMers281874678
23andMe allrs281874678
SNP Nexus

SNPshotrs281874678
SNPdbers281874678
MSV3drs281874678
GWAS Ctlgrs281874678
Max Magnitude0
ClinVar
Risk rs281874678(;)
Alt rs281874678(;)
Reference rs281874678(TTCCTGGCCCGAAA;TTCCTGGCCCGAAA)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107840776_107840789delTTCCTGGCCCGAAA
CLNSRC ClinVar
CLNACC RCV000021323.1,


[PMID 20378821OA-icon.png] Genotype-phenotype correlation in X-linked Alport syndrome.