rs1057516518

Orientation

plus

Stabilized

plus

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

Make rs1057516518(-;C)

Make rs1057516518(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218662966

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs1057516518
dbSNP (classic)	rs1057516518
ClinGen	rs1057516518
ebi	rs1057516518
HLI	rs1057516518
Exac	rs1057516518
Gnomad	rs1057516518
Varsome	rs1057516518
LitVar	rs1057516518
Map	rs1057516518
PheGenI	rs1057516518
Biobank	rs1057516518
1000 genomes	rs1057516518
hgdp	rs1057516518
ensembl	rs1057516518
geneview	rs1057516518
scholar	rs1057516518
google	rs1057516518
pharmgkb	rs1057516518
gwascentral	rs1057516518
openSNP	rs1057516518
23andMe	rs1057516518
SNPshot	rs1057516518
SNPdbe	rs1057516518
MSV3d	rs1057516518
GWAS Ctlg	rs1057516518

Max Magnitude

0

ClinVar
Risk	rs1057516518(C;C)
Alt	rs1057516518(C;C)
Reference	Rs1057516518(-;-)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219527689dupC
CLNSRC
CLNACC	RCV000412303.1,