rs1057516719

Orientation

plus

Stabilized

plus

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

Make rs1057516719(-;-)

Make rs1057516719(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90794169

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057516719
dbSNP (classic)	rs1057516719
ClinGen	rs1057516719
ebi	rs1057516719
HLI	rs1057516719
Exac	rs1057516719
Gnomad	rs1057516719
Varsome	rs1057516719
LitVar	rs1057516719
Map	rs1057516719
PheGenI	rs1057516719
Biobank	rs1057516719
1000 genomes	rs1057516719
hgdp	rs1057516719
ensembl	rs1057516719
geneview	rs1057516719
scholar	rs1057516719
google	rs1057516719
pharmgkb	rs1057516719
gwascentral	rs1057516719
openSNP	rs1057516719
23andMe	rs1057516719
SNPshot	rs1057516719
SNPdbe	rs1057516719
MSV3d	rs1057516719
GWAS Ctlg	rs1057516719

Max Magnitude

0

ClinVar
Risk	rs1057516719(-;-)
Alt	rs1057516719(-;-)
Reference	Rs1057516719(G;G)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91337399delG
CLNSRC
CLNACC	RCV000409280.1,