rs1057519282

Orientation

plus

Stabilized

plus

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

Make rs1057519282(-;C)

Make rs1057519282(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

35719507

Gene

KMT2B

is a	snp
is	mentioned by
dbSNP	rs1057519282
dbSNP (classic)	rs1057519282
ClinGen	rs1057519282
ebi	rs1057519282
HLI	rs1057519282
Exac	rs1057519282
Gnomad	rs1057519282
Varsome	rs1057519282
LitVar	rs1057519282
Map	rs1057519282
PheGenI	rs1057519282
Biobank	rs1057519282
1000 genomes	rs1057519282
hgdp	rs1057519282
ensembl	rs1057519282
geneview	rs1057519282
scholar	rs1057519282
google	rs1057519282
pharmgkb	rs1057519282
gwascentral	rs1057519282
openSNP	rs1057519282
23andMe	rs1057519282
SNPshot	rs1057519282
SNPdbe	rs1057519282
MSV3d	rs1057519282
GWAS Ctlg	rs1057519282

Max Magnitude

0

ClinVar
Risk	rs1057519282(C;C)
Alt	rs1057519282(C;C)
Reference	Rs1057519282(-;-)
Significance	Pathogenic
Disease	Dystonia 28
Variation	info
Gene	KMT2B
CLNDBN	Dystonia 28, childhood-onset
Reversed	0
HGVS	NC_000019.9:g.36210409dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415532.1,