rs1057516547

Orientation

plus

Stabilized

plus

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

Make rs1057516547(-;-)

Make rs1057516547(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90804246

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057516547
dbSNP (classic)	rs1057516547
ClinGen	rs1057516547
ebi	rs1057516547
HLI	rs1057516547
Exac	rs1057516547
Gnomad	rs1057516547
Varsome	rs1057516547
LitVar	rs1057516547
Map	rs1057516547
PheGenI	rs1057516547
Biobank	rs1057516547
1000 genomes	rs1057516547
hgdp	rs1057516547
ensembl	rs1057516547
geneview	rs1057516547
scholar	rs1057516547
google	rs1057516547
pharmgkb	rs1057516547
gwascentral	rs1057516547
openSNP	rs1057516547
23andMe	rs1057516547
SNPshot	rs1057516547
SNPdbe	rs1057516547
MSV3d	rs1057516547
GWAS Ctlg	rs1057516547

Max Magnitude

0

ClinVar
Risk	rs1057516547(-;-)
Alt	rs1057516547(-;-)
Reference	Rs1057516547(A;A)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91347476delA
CLNSRC
CLNACC	RCV000412256.1,