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rs76216585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs76216585(C;T)
Make rs76216585(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position89492071
GenePOC1B
is asnp
is mentioned by
dbSNPrs76216585
dbSNP (classic)rs76216585
ClinGenrs76216585
ebirs76216585
HLIrs76216585
Exacrs76216585
Gnomadrs76216585
Varsomers76216585
LitVarrs76216585
Maprs76216585
PheGenIrs76216585
Biobankrs76216585
1000 genomesrs76216585
hgdprs76216585
ensemblrs76216585
geneviewrs76216585
scholarrs76216585
googlers76216585
pharmgkbrs76216585
gwascentralrs76216585
openSNPrs76216585
23andMers76216585
SNPshotrs76216585
SNPdbers76216585
MSV3drs76216585
GWAS Ctlgrs76216585
Max Magnitude0
ClinVar
Risk rs76216585(A;A) rs76216585(G;G) rs76216585(T;T)
Alt rs76216585(A;A) rs76216585(G;G) rs76216585(T;T)
Reference Rs76216585(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy 20
Variation info
Gene POC1B
CLNDBN Cone-rod dystrophy 20
Reversed 0
HGVS NC_000012.11:g.89885848C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000143862.4,