rs119103248

Orientation

minus

Stabilized

minus

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

Make rs119103248(A;A)

Make rs119103248(A;G)

Reference

GRCh38 38.1/142

Chromosome

6

Position

152140027

Gene

SYNE1

is a	snp
is	mentioned by
dbSNP	rs119103248
dbSNP (classic)	rs119103248
ClinGen	rs119103248
ebi	rs119103248
HLI	rs119103248
Exac	rs119103248
Gnomad	rs119103248
Varsome	rs119103248
LitVar	rs119103248
Map	rs119103248
PheGenI	rs119103248
Biobank	rs119103248
1000 genomes	rs119103248
hgdp	rs119103248
ensembl	rs119103248
geneview	rs119103248
scholar	rs119103248
google	rs119103248
pharmgkb	rs119103248
gwascentral	rs119103248
openSNP	rs119103248
23andMe	rs119103248
SNPshot	rs119103248
SNPdbe	rs119103248
MSV3d	rs119103248
GWAS Ctlg	rs119103248

Max Magnitude

0

OMIM	608441
Desc
Variant	0010
Related	also

ClinVar
Risk	rs119103248(A;A)
Alt	rs119103248(A;A)
Reference	Rs119103248(G;G)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy 4 not specified Cerebellar ataxia Emery-Dreifuss muscular dystrophy
Variation	info
Gene	SYNE1
CLNDBN	Emery-Dreifuss muscular dystrophy 4, autosomal dominant not specified Cerebellar ataxia Emery-Dreifuss muscular dystrophy
Reversed	1
HGVS	NC_000006.11:g.152461162C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002424.2, RCV000174817.2, RCV000329983.1, RCV000389137.1,