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rs606231283

From SNPedia

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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
ebirs606231283
HLIrs606231283
Exacrs606231283
Varsomers606231283
Maprs606231283
PheGenIrs606231283
hapmaprs606231283
1000 genomesrs606231283
hgdprs606231283
ensemblrs606231283
gopubmedrs606231283
geneviewrs606231283
scholarrs606231283
googlers606231283
pharmgkbrs606231283
gwascentralrs606231283
openSNPrs606231283
23andMers606231283
23andMe allrs606231283
SNP Nexus

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
CLNACC RCV000144939.3,