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rs587777546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777546(C;T)
Make rs587777546(T;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position36763972
GeneIFT27
is asnp
is mentioned by
dbSNPrs587777546
ebirs587777546
HLIrs587777546
Exacrs587777546
Varsomers587777546
Maprs587777546
PheGenIrs587777546
hapmaprs587777546
1000 genomesrs587777546
hgdprs587777546
ensemblrs587777546
gopubmedrs587777546
geneviewrs587777546
scholarrs587777546
googlers587777546
pharmgkbrs587777546
gwascentralrs587777546
openSNPrs587777546
23andMers587777546
23andMe allrs587777546
SNP Nexus

SNPshotrs587777546
SNPdbers587777546
MSV3drs587777546
GWAS Ctlgrs587777546
Max Magnitude0
ClinVar
Risk rs587777546(C,T;C,T)
Alt rs587777546(C,T;C,T)
Reference rs587777546(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 19
Variation info
Gene IFT27 LOC105373021
CLNDBN Bardet-Biedl syndrome 19
Reversed 1
HGVS NC_000022.10:g.37160016C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128641.3,