rs387907358

Orientation

plus

Stabilized

plus

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

Make rs387907358(G;T)

Make rs387907358(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

48981590

Gene

WNT1

is a	snp
is	mentioned by
dbSNP	rs387907358
dbSNP (classic)	rs387907358
ClinGen	rs387907358
ebi	rs387907358
HLI	rs387907358
Exac	rs387907358
Gnomad	rs387907358
Varsome	rs387907358
LitVar	rs387907358
Map	rs387907358
PheGenI	rs387907358
Biobank	rs387907358
1000 genomes	rs387907358
hgdp	rs387907358
ensembl	rs387907358
geneview	rs387907358
scholar	rs387907358
google	rs387907358
pharmgkb	rs387907358
gwascentral	rs387907358
openSNP	rs387907358
23andMe	rs387907358
SNPshot	rs387907358
SNPdbe	rs387907358
MSV3d	rs387907358
GWAS Ctlg	rs387907358

Max Magnitude

0

ClinVar
Risk	rs387907358(T;T)
Alt	rs387907358(T;T)
Reference	Rs387907358(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta
Variation	info
Gene	WNT1
CLNDBN	Osteogenesis imperfecta, type xv
Reversed	0
HGVS	NC_000012.11:g.49375373G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043497.28,