rs587780275

Orientation

minus

Stabilized

minus

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

Make rs587780275(A;A)

Make rs587780275(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

81511392

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs587780275
dbSNP (classic)	rs587780275
ClinGen	rs587780275
ebi	rs587780275
HLI	rs587780275
Exac	rs587780275
Gnomad	rs587780275
Varsome	rs587780275
LitVar	rs587780275
Map	rs587780275
PheGenI	rs587780275
Biobank	rs587780275
1000 genomes	rs587780275
hgdp	rs587780275
ensembl	rs587780275
geneview	rs587780275
scholar	rs587780275
google	rs587780275
pharmgkb	rs587780275
gwascentral	rs587780275
openSNP	rs587780275
23andMe	rs587780275
SNPshot	rs587780275
SNPdbe	rs587780275
MSV3d	rs587780275
GWAS Ctlg	rs587780275

Max Magnitude

0

ClinVar
Risk	rs587780275(A;A)
Alt	rs587780275(A;A)
Reference	Rs587780275(T;T)
Significance	Probable-Pathogenic
Disease	Baraitser-Winter Syndrome 2
Variation	info
Gene	ACTG1
CLNDBN	Baraitser-Winter Syndrome 2
Reversed	1
HGVS	NC_000017.10:g.79478418A>T
CLNSRC
CLNACC	RCV000116227.1,