rs137852959

Orientation

plus

Stabilized

plus

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

Make rs137852959(A;A)

Make rs137852959(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

3918695

Gene	MIR103B2, PANK2

is a	snp
is	mentioned by
dbSNP	rs137852959
dbSNP (classic)	rs137852959
ClinGen	rs137852959
ebi	rs137852959
HLI	rs137852959
Exac	rs137852959
Gnomad	rs137852959
Varsome	rs137852959
LitVar	rs137852959
Map	rs137852959
PheGenI	rs137852959
Biobank	rs137852959
1000 genomes	rs137852959
hgdp	rs137852959
ensembl	rs137852959
geneview	rs137852959
scholar	rs137852959
google	rs137852959
pharmgkb	rs137852959
gwascentral	rs137852959
openSNP	rs137852959
23andMe	rs137852959
SNPshot	rs137852959
SNPdbe	rs137852959
MSV3d	rs137852959
GWAS Ctlg	rs137852959

Max Magnitude

0

OMIM	606157
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852959(A;A)
Alt	rs137852959(A;A)
Reference	Rs137852959(G;G)
Significance	Pathogenic
Disease	Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1 Hypoprebetalipoproteinemia Inborn genetic diseases not provided
Variation	info
Gene	MIR103B2 PANK2
CLNDBN	Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1, atypical Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Inborn genetic diseases not provided
Reversed	0
HGVS	NC_000020.10:g.3899342G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004807.3, RCV000004808.3, RCV000132732.1, RCV000190815.1, RCV000224470.1,