rs121908108

Orientation

plus

Stabilized

plus

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

Make rs121908108(A;A)

Make rs121908108(A;C)

Reference

GRCh38 38.1/141

Chromosome

20

Position

31820357

Gene

MYLK2

is a	snp
is	mentioned by
dbSNP	rs121908108
dbSNP (classic)	rs121908108
ClinGen	rs121908108
ebi	rs121908108
HLI	rs121908108
Exac	rs121908108
Gnomad	rs121908108
Varsome	rs121908108
LitVar	rs121908108
Map	rs121908108
PheGenI	rs121908108
Biobank	rs121908108
1000 genomes	rs121908108
hgdp	rs121908108
ensembl	rs121908108
geneview	rs121908108
scholar	rs121908108
google	rs121908108
pharmgkb	rs121908108
gwascentral	rs121908108
openSNP	rs121908108
23andMe	rs121908108
SNPshot	rs121908108
SNPdbe	rs121908108
MSV3d	rs121908108
GWAS Ctlg	rs121908108

GMAF

0.002755

Max Magnitude

0

OMIM	606566
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908108(A;A)
Alt	rs121908108(A;A)
Reference	Rs121908108(C;C)
Significance	Pathogenic
Disease	Cardiomyopathy not specified Familial hypertrophic cardiomyopathy 1
Variation	info
Gene	MYLK2
CLNDBN	Cardiomyopathy, hypertrophic, midventricular, digenic not specified Familial hypertrophic cardiomyopathy 1
Reversed	0
HGVS	NC_000020.10:g.30408160C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004466.2, RCV000154782.4, RCV000467194.1,