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rs121918294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918294(C;T)
Make rs121918294(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position6097619
GeneFERMT1
is asnp
is mentioned by
dbSNPrs121918294
ebirs121918294
HLIrs121918294
Exacrs121918294
Varsomers121918294
Maprs121918294
PheGenIrs121918294
hapmaprs121918294
1000 genomesrs121918294
hgdprs121918294
ensemblrs121918294
gopubmedrs121918294
geneviewrs121918294
scholarrs121918294
googlers121918294
pharmgkbrs121918294
gwascentralrs121918294
openSNPrs121918294
23andMers121918294
23andMe allrs121918294
SNP Nexus

SNPshotrs121918294
SNPdbers121918294
MSV3drs121918294
GWAS Ctlgrs121918294
Max Magnitude0
OMIM607900
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918294(T;T)
Alt rs121918294(T;T)
Reference rs121918294(C;C)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6078266G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002837.4,