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rs104894302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6.2 Hereditary PGL/PCC Syndrome
Make rs104894302(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112089002
GeneSDHD
is asnp
is mentioned by
dbSNPrs104894302
dbSNP (classic)rs104894302
ClinGenrs104894302
ebirs104894302
HLIrs104894302
Exacrs104894302
Gnomadrs104894302
Varsomers104894302
LitVarrs104894302
Maprs104894302
PheGenIrs104894302
Biobankrs104894302
1000 genomesrs104894302
hgdprs104894302
ensemblrs104894302
geneviewrs104894302
scholarrs104894302
googlers104894302
pharmgkbrs104894302
gwascentralrs104894302
openSNPrs104894302
23andMers104894302
SNPshotrs104894302
SNPdbers104894302
MSV3drs104894302
GWAS Ctlgrs104894302
Max Magnitude6.2
OMIM602690
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894302(G;G) rs104894302(T;T)
Alt rs104894302(G;G) rs104894302(T;T)
Reference Rs104894302(A;A)
Significance Pathogenic
Disease Paragangliomas 1
Variation info
Gene SDHD
CLNDBN Paragangliomas 1
Reversed 0
HGVS NC_000011.9:g.111959726A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007307.2,