rs1057519450

Orientation

plus

Stabilized

plus

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

Make rs1057519450(-;-)

Make rs1057519450(-;AGCCGGTGCGCGCG)

Make rs1057519450(AGCCGGTGCGCGCG;AGCCGGTGCGCGCG)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73537831

Gene	ACOT1, HEATR4

is a	snp
is	mentioned by
dbSNP	rs1057519450
dbSNP (classic)	rs1057519450
ClinGen	rs1057519450
ebi	rs1057519450
HLI	rs1057519450
Exac	rs1057519450
Gnomad	rs1057519450
Varsome	rs1057519450
LitVar	rs1057519450
Map	rs1057519450
PheGenI	rs1057519450
Biobank	rs1057519450
1000 genomes	rs1057519450
hgdp	rs1057519450
ensembl	rs1057519450
geneview	rs1057519450
scholar	rs1057519450
google	rs1057519450
pharmgkb	rs1057519450
gwascentral	rs1057519450
openSNP	rs1057519450
23andMe	rs1057519450
SNPshot	rs1057519450
SNPdbe	rs1057519450
MSV3d	rs1057519450
GWAS Ctlg	rs1057519450

Max Magnitude

0

ClinVar
Risk	rs1057519450(-;-)
Alt	rs1057519450(-;-)
Reference	Rs1057519450(GCGCGAGCCGGTGC;GCGCGAGCCGGTGC)
Significance	Pathogenic
Disease	Generalized hypotonia
Variation	info
Gene	HEATR4 ACOT1
CLNDBN	Generalized hypotonia
Reversed	0
HGVS	NC_000014.8:g.74004535_74004548delAGCCGGTGCGCGCG
CLNSRC
CLNACC	RCV000416479.1,