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rs869320626

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320626(A;A)
Make rs869320626(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position19220834
GeneEMC1, LOC101927895
is asnp
is mentioned by
dbSNPrs869320626
ebirs869320626
HLIrs869320626
Exacrs869320626
Varsomers869320626
Maprs869320626
PheGenIrs869320626
hapmaprs869320626
1000 genomesrs869320626
hgdprs869320626
ensemblrs869320626
gopubmedrs869320626
geneviewrs869320626
scholarrs869320626
googlers869320626
pharmgkbrs869320626
gwascentralrs869320626
openSNPrs869320626
23andMers869320626
23andMe allrs869320626
SNP Nexus

SNPshotrs869320626
SNPdbers869320626
MSV3drs869320626
GWAS Ctlgrs869320626
Max Magnitude0
ClinVar
Risk rs869320626(A;A)
Alt rs869320626(A;A)
Reference rs869320626(G;G)
Significance Pathogenic
Disease Cerebellar atrophy not specified
Variation info
Gene EMC1 LOC101927895
CLNDBN Cerebellar atrophy, visual impairment, and psychomotor retardation not specified
Reversed 1
HGVS NC_000001.10:g.19547328C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210388.1, RCV000236026.1,