rs869025320

Orientation

plus

Stabilized

plus

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

Make rs869025320(C;T)

Make rs869025320(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

209775898

Gene

UNC80

is a	snp
is	mentioned by
dbSNP	rs869025320
dbSNP (classic)	rs869025320
ClinGen	rs869025320
ebi	rs869025320
HLI	rs869025320
Exac	rs869025320
Gnomad	rs869025320
Varsome	rs869025320
LitVar	rs869025320
Map	rs869025320
PheGenI	rs869025320
Biobank	rs869025320
1000 genomes	rs869025320
hgdp	rs869025320
ensembl	rs869025320
geneview	rs869025320
scholar	rs869025320
google	rs869025320
pharmgkb	rs869025320
gwascentral	rs869025320
openSNP	rs869025320
23andMe	rs869025320
SNPshot	rs869025320
SNPdbe	rs869025320
MSV3d	rs869025320
GWAS Ctlg	rs869025320

Max Magnitude

0

ClinVar
Risk	rs869025320(T;T)
Alt	rs869025320(T;T)
Reference	Rs869025320(C;C)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	UNC80
CLNDBN	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Reversed	0
HGVS	NC_000002.11:g.210640622C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207465.3,