rs1057518673

Orientation

minus

Stabilized

minus

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

Make rs1057518673(C;T)

Make rs1057518673(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

81512237

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs1057518673
dbSNP (classic)	rs1057518673
ClinGen	rs1057518673
ebi	rs1057518673
HLI	rs1057518673
Exac	rs1057518673
Gnomad	rs1057518673
Varsome	rs1057518673
LitVar	rs1057518673
Map	rs1057518673
PheGenI	rs1057518673
Biobank	rs1057518673
1000 genomes	rs1057518673
hgdp	rs1057518673
ensembl	rs1057518673
geneview	rs1057518673
scholar	rs1057518673
google	rs1057518673
pharmgkb	rs1057518673
gwascentral	rs1057518673
openSNP	rs1057518673
23andMe	rs1057518673
SNPshot	rs1057518673
SNPdbe	rs1057518673
MSV3d	rs1057518673
GWAS Ctlg	rs1057518673

Max Magnitude

0

ClinVar
Risk	rs1057518673(T;T)
Alt	rs1057518673(T;T)
Reference	Rs1057518673(C;C)
Significance	Probable-Pathogenic
Disease	Baraitser-Winter Syndrome 2
Variation	info
Gene	FSCN2 ACTG1
CLNDBN	Baraitser-Winter Syndrome 2
Reversed	1
HGVS	NC_000017.10:g.79479263G>A
CLNSRC
CLNACC	RCV000415380.1,