rs1057516452

Orientation

plus

Stabilized

plus

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

Make rs1057516452(-;-)

Make rs1057516452(-;CGTTACA)

Make rs1057516452(CGTTACA;CGTTACA)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90784978

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057516452
dbSNP (classic)	rs1057516452
ClinGen	rs1057516452
ebi	rs1057516452
HLI	rs1057516452
Exac	rs1057516452
Gnomad	rs1057516452
Varsome	rs1057516452
LitVar	rs1057516452
Map	rs1057516452
PheGenI	rs1057516452
Biobank	rs1057516452
1000 genomes	rs1057516452
hgdp	rs1057516452
ensembl	rs1057516452
geneview	rs1057516452
scholar	rs1057516452
google	rs1057516452
pharmgkb	rs1057516452
gwascentral	rs1057516452
openSNP	rs1057516452
23andMe	rs1057516452
SNPshot	rs1057516452
SNPdbe	rs1057516452
MSV3d	rs1057516452
GWAS Ctlg	rs1057516452

Max Magnitude

0

ClinVar
Risk	rs1057516452(-;-)
Alt	rs1057516452(-;-)
Reference	Rs1057516452(ACACGTT;ACACGTT)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91328208_91328214delCGTTACA
CLNSRC
CLNACC	RCV000409206.1,