rs749196764

Orientation

plus

Stabilized

plus

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

Make rs749196764(A;A)

Make rs749196764(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

218661232

Gene	BCS1L, ZNF142

is a	snp
is	mentioned by
dbSNP	rs749196764
dbSNP (classic)	rs749196764
ClinGen	rs749196764
ebi	rs749196764
HLI	rs749196764
Exac	rs749196764
Gnomad	rs749196764
Varsome	rs749196764
LitVar	rs749196764
Map	rs749196764
PheGenI	rs749196764
Biobank	rs749196764
1000 genomes	rs749196764
hgdp	rs749196764
ensembl	rs749196764
geneview	rs749196764
scholar	rs749196764
google	rs749196764
pharmgkb	rs749196764
gwascentral	rs749196764
openSNP	rs749196764
23andMe	rs749196764
SNPshot	rs749196764
SNPdbe	rs749196764
MSV3d	rs749196764
GWAS Ctlg	rs749196764

Max Magnitude

0

ClinVar
Risk	rs749196764(A;A) rs749196764(T;T)
Alt	rs749196764(A;A) rs749196764(T;T)
Reference	Rs749196764(C;C)
Significance	Probable-Pathogenic
Disease	GRACILE syndrome
Variation	info
Gene	ZNF142 BCS1L
CLNDBN	GRACILE syndrome
Reversed	0
HGVS	NC_000002.11:g.219525955C>A
CLNSRC
CLNACC	RCV000410534.1,