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rs1060500896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500896(A;A)
Make rs1060500896(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241504098
GeneFH
is asnp
is mentioned by
dbSNPrs1060500896
dbSNP (classic)rs1060500896
ClinGenrs1060500896
ebirs1060500896
HLIrs1060500896
Exacrs1060500896
Gnomadrs1060500896
Varsomers1060500896
LitVarrs1060500896
Maprs1060500896
PheGenIrs1060500896
Biobankrs1060500896
1000 genomesrs1060500896
hgdprs1060500896
ensemblrs1060500896
geneviewrs1060500896
scholarrs1060500896
googlers1060500896
pharmgkbrs1060500896
gwascentralrs1060500896
openSNPrs1060500896
23andMers1060500896
23andMe allrs1060500896
SNPshotrs1060500896
SNPdbers1060500896
MSV3drs1060500896
GWAS Ctlgrs1060500896
Max Magnitude0
ClinVar
Risk rs1060500896(A;A)
Alt rs1060500896(A;A)
Reference Rs1060500896(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Fumarase deficiency
Variation info
Gene FH
CLNDBN Hereditary cancer-predisposing syndrome Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241667398G>C; NC_000001.10:g.241667398G>T
CLNSRC
CLNACC RCV000494465.1, RCV000459166.1,