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rs397514707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514707(C;C)
Make rs397514707(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position109735176
GeneFIG4
is asnp
is mentioned by
dbSNPrs397514707
dbSNP (classic)rs397514707
ClinGenrs397514707
ebirs397514707
HLIrs397514707
Exacrs397514707
Gnomadrs397514707
Varsomers397514707
LitVarrs397514707
Maprs397514707
PheGenIrs397514707
Biobankrs397514707
1000 genomesrs397514707
hgdprs397514707
ensemblrs397514707
geneviewrs397514707
scholarrs397514707
googlers397514707
pharmgkbrs397514707
gwascentralrs397514707
openSNPrs397514707
23andMers397514707
SNPshotrs397514707
SNPdbers397514707
MSV3drs397514707
GWAS Ctlgrs397514707
Max Magnitude0
ClinVar
Risk rs397514707(C;C)
Alt rs397514707(C;C)
Reference Rs397514707(T;T)
Significance Pathogenic
Disease Yunis Varon syndrome
Variation info
Gene FIG4
CLNDBN Yunis Varon syndrome
Reversed 0
HGVS NC_000006.11:g.110056379T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000043692.3,