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rs183643295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs183643295(C;G)
Make rs183643295(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177404082
GeneF12, SLC34A1
is asnp
is mentioned by
dbSNPrs183643295
dbSNP (classic)rs183643295
ClinGenrs183643295
ebirs183643295
HLIrs183643295
Exacrs183643295
Gnomadrs183643295
Varsomers183643295
LitVarrs183643295
Maprs183643295
PheGenIrs183643295
Biobankrs183643295
1000 genomesrs183643295
hgdprs183643295
ensemblrs183643295
geneviewrs183643295
scholarrs183643295
googlers183643295
pharmgkbrs183643295
gwascentralrs183643295
openSNPrs183643295
23andMers183643295
SNPshotrs183643295
SNPdbers183643295
MSV3drs183643295
GWAS Ctlgrs183643295
Max Magnitude0
ClinVar
Risk rs183643295(G;G)
Alt rs183643295(G;G)
Reference Rs183643295(C;C)
Significance Probable-Pathogenic
Disease Reduced factor XII activity Factor XII deficiency disease
Variation info
Gene F12
CLNDBN Reduced factor XII activity Factor XII deficiency disease
Reversed 0
HGVS NC_000005.9:g.176831083C>G
CLNSRC
CLNACC RCV000363246.1, RCV000490384.1,