rs1057519436

Orientation

plus

Stabilized

plus

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

Make rs1057519436(A;A)

Make rs1057519436(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

47846550

Gene

DHX30

is a	snp
is	mentioned by
dbSNP	rs1057519436
dbSNP (classic)	rs1057519436
ClinGen	rs1057519436
ebi	rs1057519436
HLI	rs1057519436
Exac	rs1057519436
Gnomad	rs1057519436
Varsome	rs1057519436
LitVar	rs1057519436
Map	rs1057519436
PheGenI	rs1057519436
Biobank	rs1057519436
1000 genomes	rs1057519436
hgdp	rs1057519436
ensembl	rs1057519436
geneview	rs1057519436
scholar	rs1057519436
google	rs1057519436
pharmgkb	rs1057519436
gwascentral	rs1057519436
openSNP	rs1057519436
23andMe	rs1057519436
SNPshot	rs1057519436
SNPdbe	rs1057519436
MSV3d	rs1057519436
GWAS Ctlg	rs1057519436

Max Magnitude

0

ClinVar
Risk	rs1057519436(A;A)
Alt	rs1057519436(A;A)
Reference	Rs1057519436(G;G)
Significance	Pathogenic
Disease	Microcephaly Oculomotor apraxia Seizures Short stature Strabismus Unsteady gait
Variation	info
Gene	DHX30
CLNDBN	Microcephaly Oculomotor apraxia Seizures Short stature Strabismus Unsteady gait
Reversed	0
HGVS	NC_000003.11:g.47888040G>A
CLNSRC
CLNACC	RCV000416420.1,