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rs17876030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs17876030(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177404825
GeneF12, SLC34A1
is asnp
is mentioned by
dbSNPrs17876030
dbSNP (classic)rs17876030
ClinGenrs17876030
ebirs17876030
HLIrs17876030
Exacrs17876030
Gnomadrs17876030
Varsomers17876030
LitVarrs17876030
Maprs17876030
PheGenIrs17876030
Biobankrs17876030
1000 genomesrs17876030
hgdprs17876030
ensemblrs17876030
geneviewrs17876030
scholarrs17876030
googlers17876030
pharmgkbrs17876030
gwascentralrs17876030
openSNPrs17876030
23andMers17876030
SNPshotrs17876030
SNPdbers17876030
MSV3drs17876030
GWAS Ctlgrs17876030
GMAF0.05372
Max Magnitude0



ClinVar
Risk Rs17876030(C;C) rs17876030(T;T)
Alt Rs17876030(C;C) rs17876030(T;T)
Reference Rs17876030(G;G)
Significance Non-pathogenic
Disease not specified Hereditary Angioedema Reduced factor XII activity
Variation info
Gene F12
CLNDBN not specified Hereditary Angioedema Reduced factor XII activity
Reversed 1
HGVS NC_000005.9:g.176831826C>G
CLNSRC
CLNACC RCV000252303.1, RCV000264675.1, RCV000360167.1,