rs200659479

Orientation

plus

Stabilized

plus

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

Make rs200659479(C;T)

Make rs200659479(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

209813719

Gene

UNC80

is a	snp
is	mentioned by
dbSNP	rs200659479
dbSNP (classic)	rs200659479
ClinGen	rs200659479
ebi	rs200659479
HLI	rs200659479
Exac	rs200659479
Gnomad	rs200659479
Varsome	rs200659479
LitVar	rs200659479
Map	rs200659479
PheGenI	rs200659479
Biobank	rs200659479
1000 genomes	rs200659479
hgdp	rs200659479
ensembl	rs200659479
geneview	rs200659479
scholar	rs200659479
google	rs200659479
pharmgkb	rs200659479
gwascentral	rs200659479
openSNP	rs200659479
23andMe	rs200659479
SNPshot	rs200659479
SNPdbe	rs200659479
MSV3d	rs200659479
GWAS Ctlg	rs200659479

Max Magnitude

0

ClinVar
Risk	rs200659479(T;T)
Alt	rs200659479(T;T)
Reference	Rs200659479(C;C)
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.210678443C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203562.1, RCV000207471.1,