rs1057516956

Orientation

plus

Stabilized

plus

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

Make rs1057516956(-;-)

Make rs1057516956(-;GGAAGGTCGGCCAA)

Make rs1057516956(GGAAGGTCGGCCAA;GGAAGGTCGGCCAA)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90761137

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057516956
dbSNP (classic)	rs1057516956
ClinGen	rs1057516956
ebi	rs1057516956
HLI	rs1057516956
Exac	rs1057516956
Gnomad	rs1057516956
Varsome	rs1057516956
LitVar	rs1057516956
Map	rs1057516956
PheGenI	rs1057516956
Biobank	rs1057516956
1000 genomes	rs1057516956
hgdp	rs1057516956
ensembl	rs1057516956
geneview	rs1057516956
scholar	rs1057516956
google	rs1057516956
pharmgkb	rs1057516956
gwascentral	rs1057516956
openSNP	rs1057516956
23andMe	rs1057516956
SNPshot	rs1057516956
SNPdbe	rs1057516956
MSV3d	rs1057516956
GWAS Ctlg	rs1057516956

Max Magnitude

0

ClinVar
Risk	rs1057516956(-;-)
Alt	rs1057516956(-;-)
Reference	Rs1057516956(CAAGGAAGGTCGGC;CAAGGAAGGTCGGC)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91304367_91304380delGGAAGGTCGGCCAA
CLNSRC
CLNACC	RCV000410100.1,