rs1057519283

Orientation

plus

Stabilized

plus

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

Make rs1057519283(C;T)

Make rs1057519283(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

35721037

Gene

KMT2B

is a	snp
is	mentioned by
dbSNP	rs1057519283
dbSNP (classic)	rs1057519283
ClinGen	rs1057519283
ebi	rs1057519283
HLI	rs1057519283
Exac	rs1057519283
Gnomad	rs1057519283
Varsome	rs1057519283
LitVar	rs1057519283
Map	rs1057519283
PheGenI	rs1057519283
Biobank	rs1057519283
1000 genomes	rs1057519283
hgdp	rs1057519283
ensembl	rs1057519283
geneview	rs1057519283
scholar	rs1057519283
google	rs1057519283
pharmgkb	rs1057519283
gwascentral	rs1057519283
openSNP	rs1057519283
23andMe	rs1057519283
SNPshot	rs1057519283
SNPdbe	rs1057519283
MSV3d	rs1057519283
GWAS Ctlg	rs1057519283

Max Magnitude

0

ClinVar
Risk	rs1057519283(T;T)
Alt	rs1057519283(T;T)
Reference	Rs1057519283(C;C)
Significance	Pathogenic
Disease	Dystonia 28
Variation	info
Gene	KMT2B
CLNDBN	Dystonia 28, childhood-onset
Reversed	0
HGVS	NC_000019.9:g.36211939C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415564.1,