rs1057516728

Orientation

plus

Stabilized

plus

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

Make rs1057516728(A;A)

Make rs1057516728(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90809240

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057516728
dbSNP (classic)	rs1057516728
ClinGen	rs1057516728
ebi	rs1057516728
HLI	rs1057516728
Exac	rs1057516728
Gnomad	rs1057516728
Varsome	rs1057516728
LitVar	rs1057516728
Map	rs1057516728
PheGenI	rs1057516728
Biobank	rs1057516728
1000 genomes	rs1057516728
hgdp	rs1057516728
ensembl	rs1057516728
geneview	rs1057516728
scholar	rs1057516728
google	rs1057516728
pharmgkb	rs1057516728
gwascentral	rs1057516728
openSNP	rs1057516728
23andMe	rs1057516728
SNPshot	rs1057516728
SNPdbe	rs1057516728
MSV3d	rs1057516728
GWAS Ctlg	rs1057516728

Max Magnitude

0

ClinVar
Risk	rs1057516728(A;A)
Alt	rs1057516728(A;A)
Reference	Rs1057516728(C;C)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91352470C>A
CLNSRC
CLNACC	RCV000409908.1,