rs1057516700

Orientation

plus

Stabilized

plus

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

Make rs1057516700(C;T)

Make rs1057516700(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90785079

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057516700
dbSNP (classic)	rs1057516700
ClinGen	rs1057516700
ebi	rs1057516700
HLI	rs1057516700
Exac	rs1057516700
Gnomad	rs1057516700
Varsome	rs1057516700
LitVar	rs1057516700
Map	rs1057516700
PheGenI	rs1057516700
Biobank	rs1057516700
1000 genomes	rs1057516700
hgdp	rs1057516700
ensembl	rs1057516700
geneview	rs1057516700
scholar	rs1057516700
google	rs1057516700
pharmgkb	rs1057516700
gwascentral	rs1057516700
openSNP	rs1057516700
23andMe	rs1057516700
SNPshot	rs1057516700
SNPdbe	rs1057516700
MSV3d	rs1057516700
GWAS Ctlg	rs1057516700

Max Magnitude

0

ClinVar
Risk	rs1057516700(T;T)
Alt	rs1057516700(T;T)
Reference	Rs1057516700(C;C)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91328309C>T
CLNSRC
CLNACC	RCV000410779.1,