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rs150619347

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs150619347(A;A)
Make rs150619347(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position230988440
GeneARV1
is asnp
is mentioned by
dbSNPrs150619347
ebirs150619347
HLIrs150619347
Exacrs150619347
Varsomers150619347
Maprs150619347
PheGenIrs150619347
hapmaprs150619347
1000 genomesrs150619347
hgdprs150619347
ensemblrs150619347
gopubmedrs150619347
geneviewrs150619347
scholarrs150619347
googlers150619347
pharmgkbrs150619347
gwascentralrs150619347
openSNPrs150619347
23andMers150619347
23andMe allrs150619347
SNP Nexus

SNPshotrs150619347
SNPdbers150619347
MSV3drs150619347
GWAS Ctlgrs150619347
Max Magnitude0
ClinVar
Risk rs150619347(A;A)
Alt rs150619347(A;A)
Reference rs150619347(G;G)
Significance Pathogenic
Disease ARV1-related condition Epileptic encephalopathy
Variation info
Gene ARV1
CLNDBN ARV1-related condition Epileptic encephalopathy, early infantile, 38
Reversed 0
HGVS NC_000001.10:g.231124186G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000234848.1, RCV000235015.1,