rs1057517412

Orientation

plus

Stabilized

plus

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

Make rs1057517412(-;-)

Make rs1057517412(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218661503

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs1057517412
dbSNP (classic)	rs1057517412
ClinGen	rs1057517412
ebi	rs1057517412
HLI	rs1057517412
Exac	rs1057517412
Gnomad	rs1057517412
Varsome	rs1057517412
LitVar	rs1057517412
Map	rs1057517412
PheGenI	rs1057517412
Biobank	rs1057517412
1000 genomes	rs1057517412
hgdp	rs1057517412
ensembl	rs1057517412
geneview	rs1057517412
scholar	rs1057517412
google	rs1057517412
pharmgkb	rs1057517412
gwascentral	rs1057517412
openSNP	rs1057517412
23andMe	rs1057517412
SNPshot	rs1057517412
SNPdbe	rs1057517412
MSV3d	rs1057517412
GWAS Ctlg	rs1057517412

Max Magnitude

0

ClinVar
Risk	rs1057517412(-;-)
Alt	rs1057517412(-;-)
Reference	Rs1057517412(C;C)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	BCS1L ZNF142
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219526226delC
CLNSRC
CLNACC	RCV000409243.1,