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rs606231283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs606231283(A;C)
Make rs606231283(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position48261205
GeneITM2B
is asnp
is mentioned by
dbSNPrs606231283
dbSNP (classic)rs606231283
ClinGenrs606231283
ebirs606231283
HLIrs606231283
Exacrs606231283
Gnomadrs606231283
Varsomers606231283
LitVarrs606231283
Maprs606231283
PheGenIrs606231283
Biobankrs606231283
1000 genomesrs606231283
hgdprs606231283
ensemblrs606231283
geneviewrs606231283
scholarrs606231283
googlers606231283
pharmgkbrs606231283
gwascentralrs606231283
openSNPrs606231283
23andMers606231283
SNPshotrs606231283
SNPdbers606231283
MSV3drs606231283
GWAS Ctlgrs606231283
Max Magnitude0
ClinVar
Risk rs606231283(C;C)
Alt rs606231283(C;C)
Reference Rs606231283(A;A)
Significance Pathogenic
Disease Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Variation info
Gene ITM2B
CLNDBN Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Reversed 0
HGVS NC_000013.10:g.48835341A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144939.3,