rs119103243

Orientation

minus

Stabilized

minus

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

Make rs119103243(A;T)

Make rs119103243(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

152381320

Gene	SYNE1, SYNE1-AS1

is a	snp
is	mentioned by
dbSNP	rs119103243
dbSNP (classic)	rs119103243
ClinGen	rs119103243
ebi	rs119103243
HLI	rs119103243
Exac	rs119103243
Gnomad	rs119103243
Varsome	rs119103243
LitVar	rs119103243
Map	rs119103243
PheGenI	rs119103243
Biobank	rs119103243
1000 genomes	rs119103243
hgdp	rs119103243
ensembl	rs119103243
geneview	rs119103243
scholar	rs119103243
google	rs119103243
pharmgkb	rs119103243
gwascentral	rs119103243
openSNP	rs119103243
23andMe	rs119103243
SNPshot	rs119103243
SNPdbe	rs119103243
MSV3d	rs119103243
GWAS Ctlg	rs119103243

Max Magnitude

0

OMIM	608441
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119103243(T;T)
Alt	rs119103243(T;T)
Reference	Rs119103243(A;A)
Significance	Pathogenic
Disease	Spinocerebellar ataxia
Variation	info
Gene	SYNE1-AS1 SYNE1
CLNDBN	Spinocerebellar ataxia, autosomal recessive 8
Reversed	1
HGVS	NC_000006.11:g.152702455T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002417.2,