rs1060499738

Orientation

minus

Stabilized

minus

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

Make rs1060499738(A;A)

Make rs1060499738(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

100647014

Gene

ACTL6B

is a	snp
is	mentioned by
dbSNP	rs1060499738
dbSNP (classic)	rs1060499738
ClinGen	rs1060499738
ebi	rs1060499738
HLI	rs1060499738
Exac	rs1060499738
Gnomad	rs1060499738
Varsome	rs1060499738
LitVar	rs1060499738
Map	rs1060499738
PheGenI	rs1060499738
Biobank	rs1060499738
1000 genomes	rs1060499738
hgdp	rs1060499738
ensembl	rs1060499738
geneview	rs1060499738
scholar	rs1060499738
google	rs1060499738
pharmgkb	rs1060499738
gwascentral	rs1060499738
openSNP	rs1060499738
23andMe	rs1060499738
SNPshot	rs1060499738
SNPdbe	rs1060499738
MSV3d	rs1060499738
GWAS Ctlg	rs1060499738

Max Magnitude

0

ClinVar
Risk	rs1060499738(A;A)
Alt	rs1060499738(A;A)
Reference	Rs1060499738(G;G)
Significance	Probable-Pathogenic
Disease	Global developmental delay Intellectual disability
Variation	info
Gene	ACTL6B
CLNDBN	Global developmental delay Intellectual disability
Reversed	1
HGVS	NC_000007.13:g.100244637C>T
CLNSRC
CLNACC	RCV000454131.1,