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rs797044801

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044801(A;C)
Make rs797044801(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position70254688
GeneAARS
is asnp
is mentioned by
dbSNPrs797044801
ebirs797044801
HLIrs797044801
Exacrs797044801
Varsomers797044801
Maprs797044801
PheGenIrs797044801
hapmaprs797044801
1000 genomesrs797044801
hgdprs797044801
ensemblrs797044801
gopubmedrs797044801
geneviewrs797044801
scholarrs797044801
googlers797044801
pharmgkbrs797044801
gwascentralrs797044801
openSNPrs797044801
23andMers797044801
23andMe allrs797044801
SNP Nexus

SNPshotrs797044801
SNPdbers797044801
MSV3drs797044801
GWAS Ctlgrs797044801
Max Magnitude0
ClinVar
Risk rs797044801(C;C)
Alt rs797044801(C;C)
Reference rs797044801(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene AARS
CLNDBN Charcot-Marie-Tooth disease
Reversed 1
HGVS NC_000016.9:g.70288591T>G
CLNSRC
CLNACC RCV000192254.1,