rs121918658

Orientation

minus

Stabilized

minus

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

Make rs121918658(G;G)

Make rs121918658(G;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

133352074

Gene

SURF1

is a	snp
is	mentioned by
dbSNP	rs121918658
dbSNP (classic)	rs121918658
ClinGen	rs121918658
ebi	rs121918658
HLI	rs121918658
Exac	rs121918658
Gnomad	rs121918658
Varsome	rs121918658
LitVar	rs121918658
Map	rs121918658
PheGenI	rs121918658
Biobank	rs121918658
1000 genomes	rs121918658
hgdp	rs121918658
ensembl	rs121918658
geneview	rs121918658
scholar	rs121918658
google	rs121918658
pharmgkb	rs121918658
gwascentral	rs121918658
openSNP	rs121918658
23andMe	rs121918658
SNPshot	rs121918658
SNPdbe	rs121918658
MSV3d	rs121918658
GWAS Ctlg	rs121918658

Max Magnitude

0

OMIM	185620
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918658(G;G)
Alt	rs121918658(G;G)
Reference	Rs121918658(T;T)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome
Variation	info
Gene	SURF1
CLNDBN	Congenital myasthenic syndrome, acetazolamide-responsive
Reversed	1
HGVS	NC_000009.11:g.136218929A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013603.17,