rs1057519279

Orientation

plus

Stabilized

plus

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

Make rs1057519279(C;T)

Make rs1057519279(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

35720980

Gene

KMT2B

is a	snp
is	mentioned by
dbSNP	rs1057519279
dbSNP (classic)	rs1057519279
ClinGen	rs1057519279
ebi	rs1057519279
HLI	rs1057519279
Exac	rs1057519279
Gnomad	rs1057519279
Varsome	rs1057519279
LitVar	rs1057519279
Map	rs1057519279
PheGenI	rs1057519279
Biobank	rs1057519279
1000 genomes	rs1057519279
hgdp	rs1057519279
ensembl	rs1057519279
geneview	rs1057519279
scholar	rs1057519279
google	rs1057519279
pharmgkb	rs1057519279
gwascentral	rs1057519279
openSNP	rs1057519279
23andMe	rs1057519279
SNPshot	rs1057519279
SNPdbe	rs1057519279
MSV3d	rs1057519279
GWAS Ctlg	rs1057519279

Max Magnitude

0

ClinVar
Risk	rs1057519279(T;T)
Alt	rs1057519279(T;T)
Reference	Rs1057519279(C;C)
Significance	Pathogenic
Disease	Dystonia 28
Variation	info
Gene	KMT2B
CLNDBN	Dystonia 28, childhood-onset
Reversed	0
HGVS	NC_000019.9:g.36211882C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415516.1,