rs1057519407

Orientation

plus

Stabilized

plus

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

Make rs1057519407(A;A)

Make rs1057519407(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

118490250

Gene

KMT2A

is a	snp
is	mentioned by
dbSNP	rs1057519407
dbSNP (classic)	rs1057519407
ClinGen	rs1057519407
ebi	rs1057519407
HLI	rs1057519407
Exac	rs1057519407
Gnomad	rs1057519407
Varsome	rs1057519407
LitVar	rs1057519407
Map	rs1057519407
PheGenI	rs1057519407
Biobank	rs1057519407
1000 genomes	rs1057519407
hgdp	rs1057519407
ensembl	rs1057519407
geneview	rs1057519407
scholar	rs1057519407
google	rs1057519407
pharmgkb	rs1057519407
gwascentral	rs1057519407
openSNP	rs1057519407
23andMe	rs1057519407
SNPshot	rs1057519407
SNPdbe	rs1057519407
MSV3d	rs1057519407
GWAS Ctlg	rs1057519407

Max Magnitude

0

ClinVar
Risk	rs1057519407(A;A)
Alt	rs1057519407(A;A)
Reference	Rs1057519407(G;G)
Significance	Pathogenic
Disease	Wiedemann-Steiner syndrome
Variation	info
Gene	KMT2A
CLNDBN	Wiedemann-Steiner syndrome
Reversed	0
HGVS	NC_000011.9:g.118360965G>A
CLNSRC
CLNACC	RCV000417093.1,