rs1057516255

Orientation

plus

Stabilized

plus

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

Make rs1057516255(-;A)

Make rs1057516255(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218661905

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs1057516255
dbSNP (classic)	rs1057516255
ClinGen	rs1057516255
ebi	rs1057516255
HLI	rs1057516255
Exac	rs1057516255
Gnomad	rs1057516255
Varsome	rs1057516255
LitVar	rs1057516255
Map	rs1057516255
PheGenI	rs1057516255
Biobank	rs1057516255
1000 genomes	rs1057516255
hgdp	rs1057516255
ensembl	rs1057516255
geneview	rs1057516255
scholar	rs1057516255
google	rs1057516255
pharmgkb	rs1057516255
gwascentral	rs1057516255
openSNP	rs1057516255
23andMe	rs1057516255
SNPshot	rs1057516255
SNPdbe	rs1057516255
MSV3d	rs1057516255
GWAS Ctlg	rs1057516255

Max Magnitude

0

ClinVar
Risk	rs1057516255(A;A)
Alt	rs1057516255(A;A)
Reference	Rs1057516255(-;-)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219526628dupA
CLNSRC
CLNACC	RCV000410319.1,