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rs104894304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.2 Hereditary PGL/PCC Syndrome
Make rs104894304(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112094831
GeneSDHD
is asnp
is mentioned by
dbSNPrs104894304
dbSNP (classic)rs104894304
ClinGenrs104894304
ebirs104894304
HLIrs104894304
Exacrs104894304
Gnomadrs104894304
Varsomers104894304
LitVarrs104894304
Maprs104894304
PheGenIrs104894304
Biobankrs104894304
1000 genomesrs104894304
hgdprs104894304
ensemblrs104894304
geneviewrs104894304
scholarrs104894304
googlers104894304
pharmgkbrs104894304
gwascentralrs104894304
openSNPrs104894304
23andMers104894304
SNPshotrs104894304
SNPdbers104894304
MSV3drs104894304
GWAS Ctlgrs104894304
Max Magnitude6.2
OMIM602690
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894304(G;G)
Alt rs104894304(G;G)
Reference Rs104894304(A;A)
Significance Pathogenic
Disease Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome
Variation info
Gene SDHD
CLNDBN Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.111965555A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007309.2, RCV000155750.1, RCV000221353.1,