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rs1057516195

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516195(G;T)
Make rs1057516195(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position111119909
GeneDRAM2
is asnp
is mentioned by
dbSNPrs1057516195
dbSNP (old)rs1057516195
ClinGenrs1057516195
ebirs1057516195
HLIrs1057516195
Exacrs1057516195
Gnomadrs1057516195
Varsomers1057516195
Maprs1057516195
PheGenIrs1057516195
Biobankrs1057516195
1000 genomesrs1057516195
hgdprs1057516195
ensemblrs1057516195
gopubmedrs1057516195
geneviewrs1057516195
scholarrs1057516195
googlers1057516195
pharmgkbrs1057516195
gwascentralrs1057516195
openSNPrs1057516195
23andMers1057516195
23andMe allrs1057516195
SNPshotrs1057516195
SNPdbers1057516195
MSV3drs1057516195
GWAS Ctlgrs1057516195
Max Magnitude0
ClinVar
Risk rs1057516195(T;T)
Alt rs1057516195(T;T)
Reference Rs1057516195(G;G)
Significance Probable-Pathogenic
Disease Cone-rod dystrophy 21
Variation info
Gene DRAM2
CLNDBN Cone-rod dystrophy 21
Reversed 1
HGVS NC_000001.10:g.111662531C>A
CLNSRC
CLNACC RCV000408797.1,