rs387906994

Orientation

plus

Stabilized

plus

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

Make rs387906994(A;A)

Make rs387906994(A;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

34085985

Gene

BMPER

is a	snp
is	mentioned by
dbSNP	rs387906994
dbSNP (classic)	rs387906994
ClinGen	rs387906994
ebi	rs387906994
HLI	rs387906994
Exac	rs387906994
Gnomad	rs387906994
Varsome	rs387906994
LitVar	rs387906994
Map	rs387906994
PheGenI	rs387906994
Biobank	rs387906994
1000 genomes	rs387906994
hgdp	rs387906994
ensembl	rs387906994
geneview	rs387906994
scholar	rs387906994
google	rs387906994
pharmgkb	rs387906994
gwascentral	rs387906994
openSNP	rs387906994
23andMe	rs387906994
SNPshot	rs387906994
SNPdbe	rs387906994
MSV3d	rs387906994
GWAS Ctlg	rs387906994

Max Magnitude

0

ClinVar
Risk	rs387906994(A;A)
Alt	rs387906994(A;A)
Reference	Rs387906994(T;T)
Significance	Pathogenic
Disease	Diaphanospondylodysostosis
Variation	info
Gene	BMPER
CLNDBN	Diaphanospondylodysostosis
Reversed	0
HGVS	NC_000007.13:g.34125597T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023725.3,