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rs2070080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2070080(C;T)
Make rs2070080(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241500525
GeneFH
is asnp
is mentioned by
dbSNPrs2070080
dbSNP (old)rs2070080
ClinGenrs2070080
ebirs2070080
HLIrs2070080
Exacrs2070080
Gnomadrs2070080
Varsomers2070080
LitVarrs2070080
Maprs2070080
PheGenIrs2070080
Biobankrs2070080
1000 genomesrs2070080
hgdprs2070080
ensemblrs2070080
gopubmedrs2070080
geneviewrs2070080
scholarrs2070080
googlers2070080
pharmgkbrs2070080
gwascentralrs2070080
openSNPrs2070080
23andMers2070080
23andMe allrs2070080
SNPshotrs2070080
SNPdbers2070080
MSV3drs2070080
GWAS Ctlgrs2070080
Max Magnitude0
ClinVar
Risk rs2070080(A;A) rs2070080(T;T)
Alt rs2070080(A;A) rs2070080(T;T)
Reference Rs2070080(C;C)
Significance Probable-Pathogenic
Disease not specified Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Multiple Cutaneous and Uterine Leiomyomas not provided
Variation info
Gene FH
CLNDBN not specified Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Multiple Cutaneous and Uterine Leiomyomas not provided
Reversed 1
HGVS NC_000001.10:g.241663825G>A; NC_000001.10:g.241663825G>T
CLNSRC
CLNACC RCV000125104.1, RCV000163275.1, RCV000292482.1, RCV000338010.1, RCV000386787.1, RCV000413968.1,