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rs201068049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201068049(C;T)
Make rs201068049(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position251425
GeneSDHA
is asnp
is mentioned by
dbSNPrs201068049
dbSNP (old)rs201068049
ClinGenrs201068049
ebirs201068049
HLIrs201068049
Exacrs201068049
Gnomadrs201068049
Varsomers201068049
Maprs201068049
PheGenIrs201068049
Biobankrs201068049
1000 genomesrs201068049
hgdprs201068049
ensemblrs201068049
gopubmedrs201068049
geneviewrs201068049
scholarrs201068049
googlers201068049
pharmgkbrs201068049
gwascentralrs201068049
openSNPrs201068049
23andMers201068049
23andMe allrs201068049
SNPshotrs201068049
SNPdbers201068049
MSV3drs201068049
GWAS Ctlgrs201068049
Max Magnitude0
ClinVar
Risk rs201068049(T;T)
Alt rs201068049(T;T)
Reference Rs201068049(C;C)
Significance Probable-Pathogenic
Disease Mitochondrial complex II deficiency Paragangliomas 5 not provided
Variation info
Gene SDHA
CLNDBN Mitochondrial complex II deficiency Paragangliomas 5 not provided
Reversed 0
HGVS NC_000005.9:g.251540C>T
CLNSRC
CLNACC RCV000232844.2, RCV000419445.1,