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rs104895091

From SNPedia

Orientationminus
Geno Mag Summary
(-;TGA) 3 Carrier of a familial mediterranean fever mutation
(TGA;TGA) 0 common in clinvar


Make rs104895091(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position3243404
GeneMEFV
is asnp
is mentioned by
dbSNPrs104895091
ebirs104895091
HLIrs104895091
Exacrs104895091
Varsomers104895091
Maprs104895091
PheGenIrs104895091
hapmaprs104895091
1000 genomesrs104895091
hgdprs104895091
ensemblrs104895091
gopubmedrs104895091
geneviewrs104895091
scholarrs104895091
googlers104895091
pharmgkbrs104895091
gwascentralrs104895091
openSNPrs104895091
23andMers104895091
23andMe allrs104895091
SNP Nexus

SNPshotrs104895091
SNPdbers104895091
MSV3drs104895091
GWAS Ctlgrs104895091
Max Magnitude3
ClinVar
Risk rs104895091(;)
Alt rs104895091(;)
Reference rs104895091(TGA;TGA)
Significance Pathogenic
Disease Familial mediterranean fever Familial Mediterranean fever
Variation info
Gene MEFV
CLNDBN Familial mediterranean fever, autosomal dominant Familial Mediterranean fever
Reversed 1
HGVS NC_000016.9:g.3293404_3293406delTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002665.3, RCV000083740.1,