{{Rsnum
|rsid=121918657
|Chromosome=9
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SURF1
|position=133352446
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SURF1
}}{{omim
|id=185620
|rsnum=121918657
|variant=0006
}}{{ClinVar
|rsid=121918657
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=136219301
|CHROM=9
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SURF1:6834
|GENE_NAME=SURF1
|GENE_ID=6834
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.136219301G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=185620.0006
|CLNSIG=5
|CLNCUI=C1850599; C1850599
|CLNDBN=Congenital myasthenic syndrome, acetazolamide-responsive
|Disease=Congenital myasthenic syndrome
|CLNACC=RCV000013599.16
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1850599:614198:590
}}