rs372949028

Orientation

plus

Stabilized

plus

Make rs372949028(A;A)

Make rs372949028(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

20061684

Gene

TANGO2

is a	snp
is	mentioned by
dbSNP	rs372949028
dbSNP (classic)	rs372949028
ClinGen	rs372949028
ebi	rs372949028
HLI	rs372949028
Exac	rs372949028
Gnomad	rs372949028
Varsome	rs372949028
LitVar	rs372949028
Map	rs372949028
PheGenI	rs372949028
Biobank	rs372949028
1000 genomes	rs372949028
hgdp	rs372949028
ensembl	rs372949028
geneview	rs372949028
scholar	rs372949028
google	rs372949028
pharmgkb	rs372949028
gwascentral	rs372949028
openSNP	rs372949028
23andMe	rs372949028
SNPshot	rs372949028
SNPdbe	rs372949028
MSV3d	rs372949028
GWAS Ctlg	rs372949028

Max Magnitude

0

ClinVar
Risk	rs372949028(A;A)
Alt	rs372949028(A;A)
Reference	Rs372949028(G;G)
Significance	Pathogenic
Disease	Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises
Variation	info
Gene	TANGO2
CLNDBN	Acute rhabdomyolysis Cardiac arrhythmia Episodic flaccid weakness Intellectual functioning disability Seizures Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Reversed	0
HGVS	NC_000022.10:g.20049207G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210035.1, RCV000210343.2,