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rs187018744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs187018744(A;A)
Make rs187018744(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position177409589
GeneF12, SLC34A1
is asnp
is mentioned by
dbSNPrs187018744
dbSNP (classic)rs187018744
ClinGenrs187018744
ebirs187018744
HLIrs187018744
Exacrs187018744
Gnomadrs187018744
Varsomers187018744
LitVarrs187018744
Maprs187018744
PheGenIrs187018744
Biobankrs187018744
1000 genomesrs187018744
hgdprs187018744
ensemblrs187018744
geneviewrs187018744
scholarrs187018744
googlers187018744
pharmgkbrs187018744
gwascentralrs187018744
openSNPrs187018744
23andMers187018744
SNPshotrs187018744
SNPdbers187018744
MSV3drs187018744
GWAS Ctlgrs187018744
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs187018744(A;A)
Alt rs187018744(A;A)
Reference Rs187018744(G;G)
Significance Probable-non-pathogenic
Disease Reduced factor XII activity Hereditary Angioedema
Variation info
Gene F12
CLNDBN Reduced factor XII activity Hereditary Angioedema
Reversed 0
HGVS NC_000005.9:g.176836590G>A
CLNSRC
CLNACC RCV000286884.1, RCV000323254.1,