Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1060499639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499639(C;C)
Make rs1060499639(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241506084
GeneFH
is asnp
is mentioned by
dbSNPrs1060499639
dbSNP (old)rs1060499639
ClinGenrs1060499639
ebirs1060499639
HLIrs1060499639
Exacrs1060499639
Gnomadrs1060499639
Varsomers1060499639
Maprs1060499639
PheGenIrs1060499639
Biobankrs1060499639
1000 genomesrs1060499639
hgdprs1060499639
ensemblrs1060499639
gopubmedrs1060499639
geneviewrs1060499639
scholarrs1060499639
googlers1060499639
pharmgkbrs1060499639
gwascentralrs1060499639
openSNPrs1060499639
23andMers1060499639
23andMe allrs1060499639
SNPshotrs1060499639
SNPdbers1060499639
MSV3drs1060499639
GWAS Ctlgrs1060499639
Max Magnitude0
ClinVar
Risk rs1060499639(A;A) rs1060499639(C;C)
Alt rs1060499639(A;A) rs1060499639(C;C)
Reference Rs1060499639(G;G)
Significance Probable-Pathogenic
Disease Hereditary leiomyomatosis and renal cell cancer not specified Hereditary cancer-predisposing syndrome Fumarase deficiency
Variation info
Gene FH
CLNDBN Hereditary leiomyomatosis and renal cell cancer not specified Hereditary cancer-predisposing syndrome Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241669384C>G; NC_000001.10:g.241669384C>T
CLNSRC
CLNACC RCV000445614.1, RCV000489286.1, RCV000494229.1, RCV000460545.1,