rs864321623

Orientation

plus

Stabilized

plus

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

Make rs864321623(A;A)

Make rs864321623(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

209777524

Gene

UNC80

is a	snp
is	mentioned by
dbSNP	rs864321623
dbSNP (classic)	rs864321623
ClinGen	rs864321623
ebi	rs864321623
HLI	rs864321623
Exac	rs864321623
Gnomad	rs864321623
Varsome	rs864321623
LitVar	rs864321623
Map	rs864321623
PheGenI	rs864321623
Biobank	rs864321623
1000 genomes	rs864321623
hgdp	rs864321623
ensembl	rs864321623
geneview	rs864321623
scholar	rs864321623
google	rs864321623
pharmgkb	rs864321623
gwascentral	rs864321623
openSNP	rs864321623
23andMe	rs864321623
SNPshot	rs864321623
SNPdbe	rs864321623
MSV3d	rs864321623
GWAS Ctlg	rs864321623

Max Magnitude

0

ClinVar
Risk	rs864321623(A;A)
Alt	rs864321623(A;A)
Reference	Rs864321623(G;G)
Significance	Pathogenic
Disease	Encephalopathy Hypotonia
Variation	info
Gene	UNC80
CLNDBN	Encephalopathy Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Reversed	0
HGVS	NC_000002.11:g.210642248G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203565.1, RCV000207459.1,