rs1057517229

Orientation

plus

Stabilized

plus

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

Make rs1057517229(-;-)

Make rs1057517229(-;CTGA)

Make rs1057517229(CTGA;CTGA)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90749930

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057517229
dbSNP (classic)	rs1057517229
ClinGen	rs1057517229
ebi	rs1057517229
HLI	rs1057517229
Exac	rs1057517229
Gnomad	rs1057517229
Varsome	rs1057517229
LitVar	rs1057517229
Map	rs1057517229
PheGenI	rs1057517229
Biobank	rs1057517229
1000 genomes	rs1057517229
hgdp	rs1057517229
ensembl	rs1057517229
geneview	rs1057517229
scholar	rs1057517229
google	rs1057517229
pharmgkb	rs1057517229
gwascentral	rs1057517229
openSNP	rs1057517229
23andMe	rs1057517229
SNPshot	rs1057517229
SNPdbe	rs1057517229
MSV3d	rs1057517229
GWAS Ctlg	rs1057517229

Max Magnitude

0

ClinVar
Risk	rs1057517229(-;-)
Alt	rs1057517229(-;-)
Reference	Rs1057517229(TGAC;TGAC)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91293160_91293163delCTGA
CLNSRC
CLNACC	RCV000411857.1,