rs1057516954

Orientation

plus

Stabilized

plus

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

Make rs1057516954(C;C)

Make rs1057516954(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218661547

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs1057516954
dbSNP (classic)	rs1057516954
ClinGen	rs1057516954
ebi	rs1057516954
HLI	rs1057516954
Exac	rs1057516954
Gnomad	rs1057516954
Varsome	rs1057516954
LitVar	rs1057516954
Map	rs1057516954
PheGenI	rs1057516954
Biobank	rs1057516954
1000 genomes	rs1057516954
hgdp	rs1057516954
ensembl	rs1057516954
geneview	rs1057516954
scholar	rs1057516954
google	rs1057516954
pharmgkb	rs1057516954
gwascentral	rs1057516954
openSNP	rs1057516954
23andMe	rs1057516954
SNPshot	rs1057516954
SNPdbe	rs1057516954
MSV3d	rs1057516954
GWAS Ctlg	rs1057516954

Max Magnitude

0

ClinVar
Risk	rs1057516954(C;C)
Alt	rs1057516954(C;C)
Reference	Rs1057516954(T;T)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	ZNF142 BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219526270T>C
CLNSRC
CLNACC	RCV000409791.1,