rs121913621

Orientation

minus

Stabilized

minus

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

Make rs121913621(A;A)

Make rs121913621(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

10645725

Gene

MYH3

is a	snp
is	mentioned by
dbSNP	rs121913621
dbSNP (classic)	rs121913621
ClinGen	rs121913621
ebi	rs121913621
HLI	rs121913621
Exac	rs121913621
Gnomad	rs121913621
Varsome	rs121913621
LitVar	rs121913621
Map	rs121913621
PheGenI	rs121913621
Biobank	rs121913621
1000 genomes	rs121913621
hgdp	rs121913621
ensembl	rs121913621
geneview	rs121913621
scholar	rs121913621
google	rs121913621
pharmgkb	rs121913621
gwascentral	rs121913621
openSNP	rs121913621
23andMe	rs121913621
SNPshot	rs121913621
SNPdbe	rs121913621
MSV3d	rs121913621
GWAS Ctlg	rs121913621

Max Magnitude

0

OMIM	160720
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121913621(A;A) rs121913621(C;C)
Alt	rs121913621(A;A) rs121913621(C;C)
Reference	Rs121913621(G;G)
Significance	Pathogenic
Disease	Distal arthrogryposis type 2B
Variation	info
Gene	MYH3
CLNDBN	Distal arthrogryposis type 2B
Reversed	1
HGVS	NC_000017.10:g.10549042C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015206.22,