rs137853063

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a pontocerebellar hypoplasia type 1A mutation

Make rs137853063(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

96876033

Gene

VRK1

is a	snp
is	mentioned by
dbSNP	rs137853063
dbSNP (classic)	rs137853063
ClinGen	rs137853063
ebi	rs137853063
HLI	rs137853063
Exac	rs137853063
Gnomad	rs137853063
Varsome	rs137853063
LitVar	rs137853063
Map	rs137853063
PheGenI	rs137853063
Biobank	rs137853063
1000 genomes	rs137853063
hgdp	rs137853063
ensembl	rs137853063
geneview	rs137853063
scholar	rs137853063
google	rs137853063
pharmgkb	rs137853063
gwascentral	rs137853063
openSNP	rs137853063
23andMe	rs137853063
SNPshot	rs137853063
SNPdbe	rs137853063
MSV3d	rs137853063
GWAS Ctlg	rs137853063

Max Magnitude

3

aka c.1072C>T (p.Arg358Ter or R358X)

OMIM	602168
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137853063(T;T)
Alt	rs137853063(T;T)
Reference	Rs137853063(C;C)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 1A Multiple congenital anomalies Inborn genetic diseases
Variation	info
Gene	VRK1
CLNDBN	Pontocerebellar hypoplasia type 1A Multiple congenital anomalies Inborn genetic diseases
Reversed	0
HGVS	NC_000014.8:g.97342370C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007926.2, RCV000190784.1, RCV000210656.1,