rs121913648

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;AGA)	6.2	Familial Hypertrophic Cardiomyopathy
(AGA;AGA)	0	common in clinvar

Make rs121913648(-;-)

Make rs121913648(-;AAG)

Make rs121913648(AAG;AAG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23416106

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs121913648
dbSNP (classic)	rs121913648
ClinGen	rs121913648
ebi	rs121913648
HLI	rs121913648
Exac	rs121913648
Gnomad	rs121913648
Varsome	rs121913648
LitVar	rs121913648
Map	rs121913648
PheGenI	rs121913648
Biobank	rs121913648
1000 genomes	rs121913648
hgdp	rs121913648
ensembl	rs121913648
geneview	rs121913648
scholar	rs121913648
google	rs121913648
pharmgkb	rs121913648
gwascentral	rs121913648
openSNP	rs121913648
23andMe	rs121913648
SNPshot	rs121913648
SNPdbe	rs121913648
MSV3d	rs121913648
GWAS Ctlg	rs121913648

Merged from

Rs797044596

Max Magnitude

6.2

OMIM	160760
Desc
Variant	0030
Related	also

ClinVar
Risk	rs121913648(AAG;AAG) rs121913648(-;-)
Alt	rs121913648(AAG;AAG) rs121913648(-;-)
Reference	Rs121913648(AGA;AGA)
Significance	Pathogenic
Disease	Laing distal myopathy Myopathy
Variation	info
Gene	MYH7 MHRT
CLNDBN	Laing distal myopathy Myopathy, distal, 1
Reversed	1
HGVS	NC_000014.8:g.23885314_23885316delTCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015173.26, RCV000192202.1,