rs121918657

Orientation

minus

Stabilized

minus

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

Make rs121918657(C;T)

Make rs121918657(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133352446

Gene

SURF1

is a	snp
is	mentioned by
dbSNP	rs121918657
dbSNP (classic)	rs121918657
ClinGen	rs121918657
ebi	rs121918657
HLI	rs121918657
Exac	rs121918657
Gnomad	rs121918657
Varsome	rs121918657
LitVar	rs121918657
Map	rs121918657
PheGenI	rs121918657
Biobank	rs121918657
1000 genomes	rs121918657
hgdp	rs121918657
ensembl	rs121918657
geneview	rs121918657
scholar	rs121918657
google	rs121918657
pharmgkb	rs121918657
gwascentral	rs121918657
openSNP	rs121918657
23andMe	rs121918657
SNPshot	rs121918657
SNPdbe	rs121918657
MSV3d	rs121918657
GWAS Ctlg	rs121918657

Max Magnitude

0

OMIM	185620
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918657(T;T)
Alt	rs121918657(T;T)
Reference	Rs121918657(C;C)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome
Variation	info
Gene	SURF1
CLNDBN	Congenital myasthenic syndrome, acetazolamide-responsive
Reversed	1
HGVS	NC_000009.11:g.136219301G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013599.17,