rs387906792

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs387906792(A;T)

Make rs387906792(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

70277088

Gene

AARS

is a	snp
is	mentioned by
dbSNP	rs387906792
dbSNP (classic)	rs387906792
ClinGen	rs387906792
ebi	rs387906792
HLI	rs387906792
Exac	rs387906792
Gnomad	rs387906792
Varsome	rs387906792
LitVar	rs387906792
Map	rs387906792
PheGenI	rs387906792
Biobank	rs387906792
1000 genomes	rs387906792
hgdp	rs387906792
ensembl	rs387906792
geneview	rs387906792
scholar	rs387906792
google	rs387906792
pharmgkb	rs387906792
gwascentral	rs387906792
openSNP	rs387906792
23andMe	rs387906792
SNPshot	rs387906792
SNPdbe	rs387906792
MSV3d	rs387906792
GWAS Ctlg	rs387906792

Max Magnitude

0

ClinVar
Risk	rs387906792(T;T)
Alt	rs387906792(T;T)
Reference	Rs387906792(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	AARS
CLNDBN	Charcot-Marie-Tooth disease, type 2N
Reversed	1
HGVS	NC_000016.9:g.70310991T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023068.4,