rs28939088

Orientation

plus

Stabilized

plus

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

Make rs28939088(C;C)

Make rs28939088(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

3912532

Gene

PANK2

is a	snp
is	mentioned by
dbSNP	rs28939088
dbSNP (classic)	rs28939088
ClinGen	rs28939088
ebi	rs28939088
HLI	rs28939088
Exac	rs28939088
Gnomad	rs28939088
Varsome	rs28939088
LitVar	rs28939088
Map	rs28939088
PheGenI	rs28939088
Biobank	rs28939088
1000 genomes	rs28939088
hgdp	rs28939088
ensembl	rs28939088
geneview	rs28939088
scholar	rs28939088
google	rs28939088
pharmgkb	rs28939088
gwascentral	rs28939088
openSNP	rs28939088
23andMe	rs28939088
SNPshot	rs28939088
SNPdbe	rs28939088
MSV3d	rs28939088
GWAS Ctlg	rs28939088

Max Magnitude

0

OMIM	606157
Desc	HARP SYNDROME
Variant	0012
Related	also

ClinVar
Risk	rs28939088(C;C)
Alt	rs28939088(C;C)
Reference	Rs28939088(T;T)
Significance	Pathogenic
Disease	Hypoprebetalipoproteinemia
Variation	info
Gene	PANK2
CLNDBN	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Reversed	0
HGVS	NC_000020.10:g.3893179T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004819.2,