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rs587777278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777278(A;A)
Make rs587777278(A;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218662894
GeneBCS1L
is asnp
is mentioned by
dbSNPrs587777278
ebirs587777278
HLIrs587777278
Exacrs587777278
Varsomers587777278
Maprs587777278
PheGenIrs587777278
hapmaprs587777278
1000 genomesrs587777278
hgdprs587777278
ensemblrs587777278
gopubmedrs587777278
geneviewrs587777278
scholarrs587777278
googlers587777278
pharmgkbrs587777278
gwascentralrs587777278
openSNPrs587777278
23andMers587777278
23andMe allrs587777278
SNP Nexus

SNPshotrs587777278
SNPdbers587777278
MSV3drs587777278
GWAS Ctlgrs587777278
Max Magnitude0
ClinVar
Risk rs587777278(A;A)
Alt rs587777278(A;A)
Reference rs587777278(T;T)
Significance Pathogenic
Disease Pili torti-deafness syndrome
Variation info
Gene BCS1L
CLNDBN Pili torti-deafness syndrome
Reversed 0
HGVS NC_000002.11:g.219527617T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114392.2,