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rs376306240

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376306240(C;C)
Make rs376306240(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position56511229
GeneBBS2
is asnp
is mentioned by
dbSNPrs376306240
ebirs376306240
HLIrs376306240
Exacrs376306240
Varsomers376306240
Maprs376306240
PheGenIrs376306240
hapmaprs376306240
1000 genomesrs376306240
hgdprs376306240
ensemblrs376306240
gopubmedrs376306240
geneviewrs376306240
scholarrs376306240
googlers376306240
pharmgkbrs376306240
gwascentralrs376306240
openSNPrs376306240
23andMers376306240
23andMe allrs376306240
SNP Nexus

SNPshotrs376306240
SNPdbers376306240
MSV3drs376306240
GWAS Ctlgrs376306240
Max Magnitude0
ClinVar
Risk rs376306240(C;C)
Alt rs376306240(C;C)
Reference rs376306240(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 74
Variation info
Gene BBS2
CLNDBN Retinitis pigmentosa 74
Reversed 0
HGVS NC_000016.9:g.56545141G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190988.3,