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rs869320624

From SNPedia

Orientationminus
Geno Mag Summary
(TCCT;TCCT) 0 common in clinvar
Make rs869320624(-;-)
Make rs869320624(-;TCCT)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position19220814
GeneEMC1, LOC101927895
is asnp
is mentioned by
dbSNPrs869320624
ebirs869320624
HLIrs869320624
Exacrs869320624
Varsomers869320624
Maprs869320624
PheGenIrs869320624
hapmaprs869320624
1000 genomesrs869320624
hgdprs869320624
ensemblrs869320624
gopubmedrs869320624
geneviewrs869320624
scholarrs869320624
googlers869320624
pharmgkbrs869320624
gwascentralrs869320624
openSNPrs869320624
23andMers869320624
23andMe allrs869320624
SNP Nexus

SNPshotrs869320624
SNPdbers869320624
MSV3drs869320624
GWAS Ctlgrs869320624
Max Magnitude0
ClinVar
Risk rs869320624(;)
Alt rs869320624(;)
Reference rs869320624(TCCT;TCCT)
Significance Pathogenic
Disease Cerebellar atrophy not provided
Variation info
Gene EMC1 LOC101927895
CLNDBN Cerebellar atrophy, visual impairment, and psychomotor retardation not provided
Reversed 1
HGVS NC_000001.10:g.19547308_19547311delAGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000210401.2, RCV000236490.1,