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rs387907570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a familial mediterranean fever mutation
(G;G) 0 common in clinvar


Make rs387907570(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position3243427
GeneMEFV
is asnp
is mentioned by
dbSNPrs387907570
dbSNP (classic)rs387907570
ClinGenrs387907570
ebirs387907570
HLIrs387907570
Exacrs387907570
Gnomadrs387907570
Varsomers387907570
LitVarrs387907570
Maprs387907570
PheGenIrs387907570
Biobankrs387907570
1000 genomesrs387907570
hgdprs387907570
ensemblrs387907570
geneviewrs387907570
scholarrs387907570
googlers387907570
pharmgkbrs387907570
gwascentralrs387907570
openSNPrs387907570
23andMers387907570
SNPshotrs387907570
SNPdbers387907570
MSV3drs387907570
GWAS Ctlgrs387907570
Max Magnitude3
ClinVar
Risk rs387907570(A;A)
Alt rs387907570(A;A)
Reference Rs387907570(G;G)
Significance Pathogenic
Disease Familial Mediterranean fever not provided
Variation info
Gene MEFV
CLNDBN Familial Mediterranean fever not provided
Reversed 1
HGVS NC_000016.9:g.3293427C>T
CLNSRC
CLNACC RCV000049558.1, RCV000216370.1,