rs113993956

Orientation

plus

Stabilized

plus

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

Make rs113993956(G;T)

Make rs113993956(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

50268255

Gene

MYH14

is a	snp
is	mentioned by
dbSNP	rs113993956
dbSNP (classic)	rs113993956
ClinGen	rs113993956
ebi	rs113993956
HLI	rs113993956
Exac	rs113993956
Gnomad	rs113993956
Varsome	rs113993956
LitVar	rs113993956
Map	rs113993956
PheGenI	rs113993956
Biobank	rs113993956
1000 genomes	rs113993956
hgdp	rs113993956
ensembl	rs113993956
geneview	rs113993956
scholar	rs113993956
google	rs113993956
pharmgkb	rs113993956
gwascentral	rs113993956
openSNP	rs113993956
23andMe	rs113993956
SNPshot	rs113993956
SNPdbe	rs113993956
MSV3d	rs113993956
GWAS Ctlg	rs113993956

Max Magnitude

0

ClinVar
Risk	rs113993956(A;A) rs113993956(T;T)
Alt	rs113993956(A;A) rs113993956(T;T)
Reference	Rs113993956(G;G)
Significance	Pathogenic
Disease	Peripheral neuropathy
Variation	info
Gene	MYH14
CLNDBN	Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Reversed	0
HGVS	NC_000019.9:g.50771512G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023718.4,