Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918292(C;T)
Make rs121918292(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position6107594
GeneFERMT1
is asnp
is mentioned by
dbSNPrs121918292
ebirs121918292
HLIrs121918292
Exacrs121918292
Varsomers121918292
Maprs121918292
PheGenIrs121918292
hapmaprs121918292
1000 genomesrs121918292
hgdprs121918292
ensemblrs121918292
gopubmedrs121918292
geneviewrs121918292
scholarrs121918292
googlers121918292
pharmgkbrs121918292
gwascentralrs121918292
openSNPrs121918292
23andMers121918292
23andMe allrs121918292
SNP Nexus

SNPshotrs121918292
SNPdbers121918292
MSV3drs121918292
GWAS Ctlgrs121918292
Max Magnitude0
OMIM607900
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918292(T;T)
Alt rs121918292(T;T)
Reference rs121918292(C;C)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6088241G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002833.3,