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rs137852682

From SNPedia

Orientationminus
Stabilizedminus
Make rs137852682(A;A)
Make rs137852682(A;G)
Make rs137852682(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position184353787
GeneCLCN2
is asnp
is mentioned by
dbSNPrs137852682
dbSNP (old)rs137852682
ClinGenrs137852682
ebirs137852682
HLIrs137852682
Exacrs137852682
Gnomadrs137852682
Varsomers137852682
Maprs137852682
PheGenIrs137852682
Biobankrs137852682
1000 genomesrs137852682
hgdprs137852682
ensemblrs137852682
gopubmedrs137852682
geneviewrs137852682
scholarrs137852682
googlers137852682
pharmgkbrs137852682
gwascentralrs137852682
openSNPrs137852682
23andMers137852682
23andMe allrs137852682
SNP Nexus

SNPshotrs137852682
SNPdbers137852682
MSV3drs137852682
GWAS Ctlgrs137852682
Max Magnitude
OMIM600570
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852682(A;A)
Alt rs137852682(A;A)
Reference rs137852682(G;G)
Significance Other
Disease Epilepsy with grand mal seizures on awakening Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Epilepsy with grand mal seizures on awakening Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184071575C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009606.3, RCV000201800.1,