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rs10949483

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs10949483(A;A)
Make rs10949483(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position18122275
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs10949483
dbSNP (old)rs10949483
ClinGenrs10949483
ebirs10949483
HLIrs10949483
Exacrs10949483
Gnomadrs10949483
Varsomers10949483
Maprs10949483
PheGenIrs10949483
Biobankrs10949483
1000 genomesrs10949483
hgdprs10949483
ensemblrs10949483
gopubmedrs10949483
geneviewrs10949483
scholarrs10949483
googlers10949483
pharmgkbrs10949483
gwascentralrs10949483
openSNPrs10949483
23andMers10949483
23andMe allrs10949483
SNPshotrs10949483
SNPdbers10949483
MSV3drs10949483
GWAS Ctlgrs10949483
GMAF0.3687
Max Magnitude0



ClinVar
Risk rs10949483(A;A)
Alt rs10949483(A;A)
Reference Rs10949483(G;G)
Significance Non-pathogenic
Disease not specified Lafora disease
Variation info
Gene NHLRC1
CLNDBN not specified Lafora disease
Reversed 0
HGVS NC_000006.11:g.18122506G>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000117782.7, RCV000280891.1,