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rs730882241

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882241(A;A)
Make rs730882241(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position230995876
GeneARV1
is asnp
is mentioned by
dbSNPrs730882241
ebirs730882241
HLIrs730882241
Exacrs730882241
Varsomers730882241
Maprs730882241
PheGenIrs730882241
hapmaprs730882241
1000 genomesrs730882241
hgdprs730882241
ensemblrs730882241
gopubmedrs730882241
geneviewrs730882241
scholarrs730882241
googlers730882241
pharmgkbrs730882241
gwascentralrs730882241
openSNPrs730882241
23andMers730882241
23andMe allrs730882241
SNP Nexus

SNPshotrs730882241
SNPdbers730882241
MSV3drs730882241
GWAS Ctlgrs730882241
Max Magnitude0
ClinVar
Risk rs730882241(A;A)
Alt rs730882241(A;A)
Reference rs730882241(G;G)
Significance Pathogenic
Disease Blindness Neurodegeneration Epileptic encephalopathy
Variation info
Gene ARV1
CLNDBN Blindness Neurodegeneration Epileptic encephalopathy, early infantile, 38
Reversed 0
HGVS NC_000001.10:g.231131622G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162175.1, RCV000235018.1,