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rs747904021

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs747904021(C;C)
Make rs747904021(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position122743596
GeneBBS12
is asnp
is mentioned by
dbSNPrs747904021
ebirs747904021
HLIrs747904021
Exacrs747904021
Varsomers747904021
Maprs747904021
PheGenIrs747904021
hapmaprs747904021
1000 genomesrs747904021
hgdprs747904021
ensemblrs747904021
gopubmedrs747904021
geneviewrs747904021
scholarrs747904021
googlers747904021
pharmgkbrs747904021
gwascentralrs747904021
openSNPrs747904021
23andMers747904021
23andMe allrs747904021
SNP Nexus

SNPshotrs747904021
SNPdbers747904021
MSV3drs747904021
GWAS Ctlgrs747904021
Max Magnitude0
ClinVar
Risk rs747904021(A,C;A,C)
Alt rs747904021(A,C;A,C)
Reference rs747904021(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 12
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome 12
Reversed 0
HGVS NC_000004.11:g.123664751G>A
CLNSRC
CLNACC RCV000175982.1,