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rs786205857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786205857(C;C)
Make rs786205857(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position27481061
GeneIFT172
is asnp
is mentioned by
dbSNPrs786205857
dbSNP (classic)rs786205857
ClinGenrs786205857
ebirs786205857
HLIrs786205857
Exacrs786205857
Gnomadrs786205857
Varsomers786205857
LitVarrs786205857
Maprs786205857
PheGenIrs786205857
Biobankrs786205857
1000 genomesrs786205857
hgdprs786205857
ensemblrs786205857
geneviewrs786205857
scholarrs786205857
googlers786205857
pharmgkbrs786205857
gwascentralrs786205857
openSNPrs786205857
23andMers786205857
SNPshotrs786205857
SNPdbers786205857
MSV3drs786205857
GWAS Ctlgrs786205857
Max Magnitude0
ClinVar
Risk rs786205857(C;C)
Alt rs786205857(C;C)
Reference Rs786205857(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 71
Variation info
Gene IFT172
CLNDBN Retinitis pigmentosa 71
Reversed 1
HGVS NC_000002.11:g.27703928A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000171551.2,