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rs121908577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908577(A;A)
Make rs121908577(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218661846
GeneBCS1L
is asnp
is mentioned by
dbSNPrs121908577
ebirs121908577
HLIrs121908577
Exacrs121908577
Varsomers121908577
Maprs121908577
PheGenIrs121908577
hapmaprs121908577
1000 genomesrs121908577
hgdprs121908577
ensemblrs121908577
gopubmedrs121908577
geneviewrs121908577
scholarrs121908577
googlers121908577
pharmgkbrs121908577
gwascentralrs121908577
openSNPrs121908577
23andMers121908577
23andMe allrs121908577
SNP Nexus

SNPshotrs121908577
SNPdbers121908577
MSV3drs121908577
GWAS Ctlgrs121908577
Max Magnitude0
OMIM603647
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908577(A;A)
Alt rs121908577(A;A)
Reference rs121908577(G;G)
Significance Pathogenic
Disease Pili torti-deafness syndrome
Variation info
Gene BCS1L
CLNDBN Pili torti-deafness syndrome
Reversed 0
HGVS NC_000002.11:g.219526569G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006545.4,