rs1057516802

Orientation

plus

Stabilized

plus

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

Make rs1057516802(A;A)

Make rs1057516802(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218661954

Gene

BCS1L

is a	snp
is	mentioned by
dbSNP	rs1057516802
dbSNP (classic)	rs1057516802
ClinGen	rs1057516802
ebi	rs1057516802
HLI	rs1057516802
Exac	rs1057516802
Gnomad	rs1057516802
Varsome	rs1057516802
LitVar	rs1057516802
Map	rs1057516802
PheGenI	rs1057516802
Biobank	rs1057516802
1000 genomes	rs1057516802
hgdp	rs1057516802
ensembl	rs1057516802
geneview	rs1057516802
scholar	rs1057516802
google	rs1057516802
pharmgkb	rs1057516802
gwascentral	rs1057516802
openSNP	rs1057516802
23andMe	rs1057516802
SNPshot	rs1057516802
SNPdbe	rs1057516802
MSV3d	rs1057516802
GWAS Ctlg	rs1057516802

Max Magnitude

0

ClinVar
Risk	rs1057516802(A;A)
Alt	rs1057516802(A;A)
Reference	Rs1057516802(G;G)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219526677G>A
CLNSRC
CLNACC	RCV000410918.1,