rs121913619

Orientation

minus

Stabilized

minus

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

Make rs121913619(C;T)

Make rs121913619(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

10650374

Gene

MYH3

is a	snp
is	mentioned by
dbSNP	rs121913619
dbSNP (classic)	rs121913619
ClinGen	rs121913619
ebi	rs121913619
HLI	rs121913619
Exac	rs121913619
Gnomad	rs121913619
Varsome	rs121913619
LitVar	rs121913619
Map	rs121913619
PheGenI	rs121913619
Biobank	rs121913619
1000 genomes	rs121913619
hgdp	rs121913619
ensembl	rs121913619
geneview	rs121913619
scholar	rs121913619
google	rs121913619
pharmgkb	rs121913619
gwascentral	rs121913619
openSNP	rs121913619
23andMe	rs121913619
SNPshot	rs121913619
SNPdbe	rs121913619
MSV3d	rs121913619
GWAS Ctlg	rs121913619

Max Magnitude

0

OMIM	160720
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913619(T;T)
Alt	rs121913619(T;T)
Reference	Rs121913619(C;C)
Significance	Pathogenic
Disease	Freeman-Sheldon syndrome Distal arthrogryposis type 2B
Variation	info
Gene	MYH3
CLNDBN	Freeman-Sheldon syndrome Distal arthrogryposis type 2B
Reversed	1
HGVS	NC_000017.10:g.10553691G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015202.26, RCV000015203.26,