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

rs387906871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906871(A;A)
Make rs387906871(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66003284
GeneBANF1, EIF1AD
is asnp
is mentioned by
dbSNPrs387906871
dbSNP (classic)rs387906871
ClinGenrs387906871
ebirs387906871
HLIrs387906871
Exacrs387906871
Gnomadrs387906871
Varsomers387906871
LitVarrs387906871
Maprs387906871
PheGenIrs387906871
Biobankrs387906871
1000 genomesrs387906871
hgdprs387906871
ensemblrs387906871
geneviewrs387906871
scholarrs387906871
googlers387906871
pharmgkbrs387906871
gwascentralrs387906871
openSNPrs387906871
23andMers387906871
SNPshotrs387906871
SNPdbers387906871
MSV3drs387906871
GWAS Ctlgrs387906871
Max Magnitude0
ClinVar
Risk rs387906871(A;A)
Alt rs387906871(A;A)
Reference Rs387906871(G;G)
Significance Pathogenic
Disease Nestor-Guillermo progeria syndrome
Variation info
Gene BANF1 EIF1AD
CLNDBN Nestor-Guillermo progeria syndrome
Reversed 0
HGVS NC_000011.9:g.65770755G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023343.2,