rs398122806

Orientation

minus

Stabilized

minus

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

Make rs398122806(A;G)

Make rs398122806(G;G)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

133352518

Gene

SURF1

is a	snp
is	mentioned by
dbSNP	rs398122806
dbSNP (classic)	rs398122806
ClinGen	rs398122806
ebi	rs398122806
HLI	rs398122806
Exac	rs398122806
Gnomad	rs398122806
Varsome	rs398122806
LitVar	rs398122806
Map	rs398122806
PheGenI	rs398122806
Biobank	rs398122806
1000 genomes	rs398122806
hgdp	rs398122806
ensembl	rs398122806
geneview	rs398122806
scholar	rs398122806
google	rs398122806
pharmgkb	rs398122806
gwascentral	rs398122806
openSNP	rs398122806
23andMe	rs398122806
SNPshot	rs398122806
SNPdbe	rs398122806
MSV3d	rs398122806
GWAS Ctlg	rs398122806

Max Magnitude

0

ClinVar
Risk	rs398122806(C;C)
Alt	rs398122806(C;C)
Reference	Rs398122806(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.136219373A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022780.25,