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rs201422368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201422368(C;T)
Make rs201422368(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position111120539
GeneDRAM2
is asnp
is mentioned by
dbSNPrs201422368
dbSNP (classic)rs201422368
ClinGenrs201422368
ebirs201422368
HLIrs201422368
Exacrs201422368
Gnomadrs201422368
Varsomers201422368
LitVarrs201422368
Maprs201422368
PheGenIrs201422368
Biobankrs201422368
1000 genomesrs201422368
hgdprs201422368
ensemblrs201422368
geneviewrs201422368
scholarrs201422368
googlers201422368
pharmgkbrs201422368
gwascentralrs201422368
openSNPrs201422368
23andMers201422368
SNPshotrs201422368
SNPdbers201422368
MSV3drs201422368
GWAS Ctlgrs201422368
Max Magnitude0
ClinVar
Risk rs201422368(T;T)
Alt rs201422368(T;T)
Reference Rs201422368(C;C)
Significance Pathogenic
Disease Retinal dystrophy Cone-rod dystrophy 21
Variation info
Gene DRAM2
CLNDBN Retinal dystrophy Cone-rod dystrophy 21
Reversed 0
HGVS NC_000001.10:g.111663161C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000172838.1, RCV000186602.2,