rs137852967

Orientation

plus

Stabilized

plus

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

Make rs137852967(C;T)

Make rs137852967(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

3918717

Gene	MIR103B2, PANK2

is a	snp
is	mentioned by
dbSNP	rs137852967
dbSNP (classic)	rs137852967
ClinGen	rs137852967
ebi	rs137852967
HLI	rs137852967
Exac	rs137852967
Gnomad	rs137852967
Varsome	rs137852967
LitVar	rs137852967
Map	rs137852967
PheGenI	rs137852967
Biobank	rs137852967
1000 genomes	rs137852967
hgdp	rs137852967
ensembl	rs137852967
geneview	rs137852967
scholar	rs137852967
google	rs137852967
pharmgkb	rs137852967
gwascentral	rs137852967
openSNP	rs137852967
23andMe	rs137852967
SNPshot	rs137852967
SNPdbe	rs137852967
MSV3d	rs137852967
GWAS Ctlg	rs137852967

Max Magnitude

0

OMIM	606157
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137852967(T;T)
Alt	rs137852967(T;T)
Reference	Rs137852967(C;C)
Significance	Pathogenic
Disease	Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1 Hypoprebetalipoproteinemia
Variation	info
Gene	MIR103B2 PANK2
CLNDBN	Pigmentary pallidal degeneration Neurodegeneration with brain iron accumulation 1, atypical Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Reversed	0
HGVS	NC_000020.10:g.3899364C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004816.2, RCV000004817.2, RCV000132733.1,