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rs214088

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs214088(C;C)
Make rs214088(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position17276578
GeneNUCB2
is asnp
is mentioned by
dbSNPrs214088
dbSNP (classic)rs214088
ClinGenrs214088
ebirs214088
HLIrs214088
Exacrs214088
Gnomadrs214088
Varsomers214088
LitVarrs214088
Maprs214088
PheGenIrs214088
Biobankrs214088
1000 genomesrs214088
hgdprs214088
ensemblrs214088
geneviewrs214088
scholarrs214088
googlers214088
pharmgkbrs214088
gwascentralrs214088
openSNPrs214088
23andMers214088
SNPshotrs214088
SNPdbers214088
MSV3drs214088
GWAS Ctlgrs214088
Max Magnitude0

aka c.-406C>G

ClinVar
Risk rs214088(A;A) rs214088(C;C)
Alt rs214088(A;A) rs214088(C;C)
Reference Rs214088(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene NUCB2
CLNDBN not provided
Reversed 1
HGVS NC_000011.9:g.17298125C>G
CLNSRC
CLNACC RCV000114966.1,