rs187018744

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs187018744(A;A)

Make rs187018744(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

5

Position

177409589

Gene	F12, SLC34A1

is a	snp
is	mentioned by
dbSNP	rs187018744
dbSNP (classic)	rs187018744
ClinGen	rs187018744
ebi	rs187018744
HLI	rs187018744
Exac	rs187018744
Gnomad	rs187018744
Varsome	rs187018744
LitVar	rs187018744
Map	rs187018744
PheGenI	rs187018744
Biobank	rs187018744
1000 genomes	rs187018744
hgdp	rs187018744
ensembl	rs187018744
geneview	rs187018744
scholar	rs187018744
google	rs187018744
pharmgkb	rs187018744
gwascentral	rs187018744
openSNP	rs187018744
23andMe	rs187018744
SNPshot	rs187018744
SNPdbe	rs187018744
MSV3d	rs187018744
GWAS Ctlg	rs187018744

Max Magnitude

0

[PMID 27569544 ] 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,