rs1057516346

Orientation

plus

Stabilized

plus

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

Make rs1057516346(G;T)

Make rs1057516346(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218662680

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs1057516346
dbSNP (classic)	rs1057516346
ClinGen	rs1057516346
ebi	rs1057516346
HLI	rs1057516346
Exac	rs1057516346
Gnomad	rs1057516346
Varsome	rs1057516346
LitVar	rs1057516346
Map	rs1057516346
PheGenI	rs1057516346
Biobank	rs1057516346
1000 genomes	rs1057516346
hgdp	rs1057516346
ensembl	rs1057516346
geneview	rs1057516346
scholar	rs1057516346
google	rs1057516346
pharmgkb	rs1057516346
gwascentral	rs1057516346
openSNP	rs1057516346
23andMe	rs1057516346
SNPshot	rs1057516346
SNPdbe	rs1057516346
MSV3d	rs1057516346
GWAS Ctlg	rs1057516346

Max Magnitude

0

ClinVar
Risk	rs1057516346(T;T)
Alt	rs1057516346(T;T)
Reference	Rs1057516346(G;G)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219527403G>T
CLNSRC
CLNACC	RCV000411192.1,