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rs200314808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200314808(C;C)
Make rs200314808(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50587992
GeneATL1
is asnp
is mentioned by
dbSNPrs200314808
dbSNP (classic)rs200314808
ClinGenrs200314808
ebirs200314808
HLIrs200314808
Exacrs200314808
Gnomadrs200314808
Varsomers200314808
LitVarrs200314808
Maprs200314808
PheGenIrs200314808
Biobankrs200314808
1000 genomesrs200314808
hgdprs200314808
ensemblrs200314808
geneviewrs200314808
scholarrs200314808
googlers200314808
pharmgkbrs200314808
gwascentralrs200314808
openSNPrs200314808
23andMers200314808
SNPshotrs200314808
SNPdbers200314808
MSV3drs200314808
GWAS Ctlgrs200314808
Max Magnitude0
ClinVar
Risk rs200314808(C;C)
Alt rs200314808(C;C)
Reference Rs200314808(G;G)
Significance Pathogenic
Disease Hereditary sensory neuropathy type 1D not specified
Variation info
Gene ATL1
CLNDBN Hereditary sensory neuropathy type 1D not specified
Reversed 0
HGVS NC_000014.8:g.51054710G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023543.3, RCV000236565.1,