Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853193(C;C)
Make rs137853193(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35995438
GeneSDHAF1
is asnp
is mentioned by
dbSNPrs137853193
dbSNP (classic)rs137853193
ClinGenrs137853193
ebirs137853193
HLIrs137853193
Exacrs137853193
Gnomadrs137853193
Varsomers137853193
LitVarrs137853193
Maprs137853193
PheGenIrs137853193
Biobankrs137853193
1000 genomesrs137853193
hgdprs137853193
ensemblrs137853193
geneviewrs137853193
scholarrs137853193
googlers137853193
pharmgkbrs137853193
gwascentralrs137853193
openSNPrs137853193
23andMers137853193
SNPshotrs137853193
SNPdbers137853193
MSV3drs137853193
GWAS Ctlgrs137853193
Max Magnitude0
OMIM612848
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853193(A;A) rs137853193(C;C)
Alt rs137853193(A;A) rs137853193(C;C)
Reference Rs137853193(G;G)
Significance Pathogenic
Disease Mitochondrial complex II deficiency
Variation info
Gene SDHAF1
CLNDBN Mitochondrial complex II deficiency
Reversed 0
HGVS NC_000019.9:g.36486340G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000458.2,