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rs113560320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.2 Hereditary PGL/PCC Syndrome
(G;G) 0 common in clinvar


Make rs113560320(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position61437820
GeneSDHAF2
is asnp
is mentioned by
dbSNPrs113560320
dbSNP (classic)rs113560320
ClinGenrs113560320
ebirs113560320
HLIrs113560320
Exacrs113560320
Gnomadrs113560320
Varsomers113560320
LitVarrs113560320
Maprs113560320
PheGenIrs113560320
Biobankrs113560320
1000 genomesrs113560320
hgdprs113560320
ensemblrs113560320
geneviewrs113560320
scholarrs113560320
googlers113560320
pharmgkbrs113560320
gwascentralrs113560320
openSNPrs113560320
23andMers113560320
SNPshotrs113560320
SNPdbers113560320
MSV3drs113560320
GWAS Ctlgrs113560320
Max Magnitude6.2
OMIM613019
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113560320(A;A)
Alt rs113560320(A;A)
Reference Rs113560320(G;G)
Significance Pathogenic
Disease Paragangliomas 2 Hereditary cancer-predisposing syndrome
Variation info
Gene SDHAF2
CLNDBN Paragangliomas 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.61205292G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000428.1, RCV000165971.1,