rs1057519298

Orientation

plus

Stabilized

plus

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

Make rs1057519298(-;-)

Make rs1057519298(-;GAAGA)

Make rs1057519298(GAAGA;GAAGA)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

112647203

Gene

LARP7

is a	snp
is	mentioned by
dbSNP	rs1057519298
dbSNP (classic)	rs1057519298
ClinGen	rs1057519298
ebi	rs1057519298
HLI	rs1057519298
Exac	rs1057519298
Gnomad	rs1057519298
Varsome	rs1057519298
LitVar	rs1057519298
Map	rs1057519298
PheGenI	rs1057519298
Biobank	rs1057519298
1000 genomes	rs1057519298
hgdp	rs1057519298
ensembl	rs1057519298
geneview	rs1057519298
scholar	rs1057519298
google	rs1057519298
pharmgkb	rs1057519298
gwascentral	rs1057519298
openSNP	rs1057519298
23andMe	rs1057519298
SNPshot	rs1057519298
SNPdbe	rs1057519298
MSV3d	rs1057519298
GWAS Ctlg	rs1057519298

Max Magnitude

0

ClinVar
Risk	rs1057519298(-;-)
Alt	rs1057519298(-;-)
Reference	Rs1057519298(AGAAG;AGAAG)
Significance	Pathogenic
Disease	Alazami syndrome
Variation	info
Gene	LARP7
CLNDBN	Alazami syndrome
Reversed	0
HGVS	NC_000004.11:g.113568359_113568363delGAAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415535.1,