rs121917865

Orientation

minus

Stabilized

minus

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

Make rs121917865(A;C)

Make rs121917865(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49908636

Gene	IL4I1, NUP62

is a	snp
is	mentioned by
dbSNP	rs121917865
dbSNP (classic)	rs121917865
ClinGen	rs121917865
ebi	rs121917865
HLI	rs121917865
Exac	rs121917865
Gnomad	rs121917865
Varsome	rs121917865
LitVar	rs121917865
Map	rs121917865
PheGenI	rs121917865
Biobank	rs121917865
1000 genomes	rs121917865
hgdp	rs121917865
ensembl	rs121917865
geneview	rs121917865
scholar	rs121917865
google	rs121917865
pharmgkb	rs121917865
gwascentral	rs121917865
openSNP	rs121917865
23andMe	rs121917865
SNPshot	rs121917865
SNPdbe	rs121917865
MSV3d	rs121917865
GWAS Ctlg	rs121917865

Merged from

Rs121918553

Max Magnitude

0

ClinVar
Risk	rs121917865(C;C)
Alt	rs121917865(C;C)
Reference	Rs121917865(A;A)
Significance	Pathogenic
Disease	Striatonigral degeneration infantile
Variation	info
Gene	NUP62 IL4I1
CLNDBN	Striatonigral degeneration infantile
Reversed	1
HGVS	NC_000019.9:g.50411893T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005018.2,