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rs121918293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918293(C;T)
Make rs121918293(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position6107570
GeneFERMT1
is asnp
is mentioned by
dbSNPrs121918293
ebirs121918293
HLIrs121918293
Exacrs121918293
Varsomers121918293
Maprs121918293
PheGenIrs121918293
hapmaprs121918293
1000 genomesrs121918293
hgdprs121918293
ensemblrs121918293
gopubmedrs121918293
geneviewrs121918293
scholarrs121918293
googlers121918293
pharmgkbrs121918293
gwascentralrs121918293
openSNPrs121918293
23andMers121918293
23andMe allrs121918293
SNP Nexus

SNPshotrs121918293
SNPdbers121918293
MSV3drs121918293
GWAS Ctlgrs121918293
Max Magnitude0
OMIM607900
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918293(T;T)
Alt rs121918293(T;T)
Reference rs121918293(C;C)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6088217G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002836.4,