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

rs200004220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200004220(A;G)
Make rs200004220(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position241500572
GeneFH
is asnp
is mentioned by
dbSNPrs200004220
dbSNP (classic)rs200004220
ClinGenrs200004220
ebirs200004220
HLIrs200004220
Exacrs200004220
Gnomadrs200004220
Varsomers200004220
LitVarrs200004220
Maprs200004220
PheGenIrs200004220
Biobankrs200004220
1000 genomesrs200004220
hgdprs200004220
ensemblrs200004220
geneviewrs200004220
scholarrs200004220
googlers200004220
pharmgkbrs200004220
gwascentralrs200004220
openSNPrs200004220
23andMers200004220
SNPshotrs200004220
SNPdbers200004220
MSV3drs200004220
GWAS Ctlgrs200004220
Max Magnitude0
ClinVar
Risk rs200004220(G;G)
Alt rs200004220(G;G)
Reference Rs200004220(A;A)
Significance Pathogenic
Disease not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000001.10:g.241663872A>G
CLNSRC HGMD
CLNACC RCV000078144.6, RCV000445624.1, RCV000461249.1, RCV000492881.1,