rs199988476

Orientation

plus

Stabilized

plus

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

Make rs199988476(C;T)

Make rs199988476(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177402460

Gene	F12, PFN3, SLC34A1

is a	snp
is	mentioned by
dbSNP	rs199988476
dbSNP (classic)	rs199988476
ClinGen	rs199988476
ebi	rs199988476
HLI	rs199988476
Exac	rs199988476
Gnomad	rs199988476
Varsome	rs199988476
LitVar	rs199988476
Map	rs199988476
PheGenI	rs199988476
Biobank	rs199988476
1000 genomes	rs199988476
hgdp	rs199988476
ensembl	rs199988476
geneview	rs199988476
scholar	rs199988476
google	rs199988476
pharmgkb	rs199988476
gwascentral	rs199988476
openSNP	rs199988476
23andMe	rs199988476
SNPshot	rs199988476
SNPdbe	rs199988476
MSV3d	rs199988476
GWAS Ctlg	rs199988476

Max Magnitude

0

ClinVar
Risk	rs199988476(G;G) rs199988476(T;T)
Alt	rs199988476(G;G) rs199988476(T;T)
Reference	Rs199988476(C;C)
Significance	Pathogenic
Disease	Factor XII deficiency disease Hypophosphatemic Nephrolithiasis/Osteoporosis F12-Related Disorders
Variation	info
Gene	F12 PFN3
CLNDBN	Factor XII deficiency disease Hypophosphatemic Nephrolithiasis/Osteoporosis F12-Related Disorders
Reversed	0
HGVS	NC_000005.9:g.176829461C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001225.3, RCV000306437.1, RCV000382012.1,