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rs146180696

From SNPedia

Orientationplus
Stabilizedplus
Make rs146180696(A;A)
Make rs146180696(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6097571
GeneFERMT1
is asnp
is mentioned by
dbSNPrs146180696
dbSNP (classic)rs146180696
ClinGenrs146180696
ebirs146180696
HLIrs146180696
Exacrs146180696
Gnomadrs146180696
Varsomers146180696
LitVarrs146180696
Maprs146180696
PheGenIrs146180696
Biobankrs146180696
1000 genomesrs146180696
hgdprs146180696
ensemblrs146180696
geneviewrs146180696
scholarrs146180696
googlers146180696
pharmgkbrs146180696
gwascentralrs146180696
openSNPrs146180696
23andMers146180696
SNPshotrs146180696
SNPdbers146180696
MSV3drs146180696
GWAS Ctlgrs146180696
Max Magnitude0
ClinVar
Risk rs146180696(A;A)
Alt rs146180696(A;A)
Reference Rs146180696(C;C)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 0
HGVS NC_000020.10:g.6078218C>A
CLNSRC
CLNACC RCV000209869.2,