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rs200024180

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200024180(A;A)
Make rs200024180(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position18884128
GeneCERS1, GDF1
is asnp
is mentioned by
dbSNPrs200024180
ebirs200024180
HLIrs200024180
Exacrs200024180
Varsomers200024180
Maprs200024180
PheGenIrs200024180
hapmaprs200024180
1000 genomesrs200024180
hgdprs200024180
ensemblrs200024180
gopubmedrs200024180
geneviewrs200024180
scholarrs200024180
googlers200024180
pharmgkbrs200024180
gwascentralrs200024180
openSNPrs200024180
23andMers200024180
23andMe allrs200024180
SNP Nexus

SNPshotrs200024180
SNPdbers200024180
MSV3drs200024180
GWAS Ctlgrs200024180
Max Magnitude0
ClinVar
Risk rs200024180(A,C;A,C)
Alt rs200024180(A,C;A,C)
Reference rs200024180(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene CERS1 GDF1
CLNDBN Epilepsy, progressive myoclonic 8
Reversed 0
HGVS NC_000019.9:g.18994937G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000161146.3,