rs1057516593

Orientation

plus

Stabilized

plus

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

Make rs1057516593(C;C)

Make rs1057516593(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90747394

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057516593
dbSNP (classic)	rs1057516593
ClinGen	rs1057516593
ebi	rs1057516593
HLI	rs1057516593
Exac	rs1057516593
Gnomad	rs1057516593
Varsome	rs1057516593
LitVar	rs1057516593
Map	rs1057516593
PheGenI	rs1057516593
Biobank	rs1057516593
1000 genomes	rs1057516593
hgdp	rs1057516593
ensembl	rs1057516593
geneview	rs1057516593
scholar	rs1057516593
google	rs1057516593
pharmgkb	rs1057516593
gwascentral	rs1057516593
openSNP	rs1057516593
23andMe	rs1057516593
SNPshot	rs1057516593
SNPdbe	rs1057516593
MSV3d	rs1057516593
GWAS Ctlg	rs1057516593

Max Magnitude

0

ClinVar
Risk	rs1057516593(C;C)
Alt	rs1057516593(C;C)
Reference	Rs1057516593(T;T)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91290624T>C
CLNSRC
CLNACC	RCV000412038.1,