rs1057517266

Orientation

plus

Stabilized

plus

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

Make rs1057517266(AGCA;GGC)

Make rs1057517266(GGC;GGC)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

90761095

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs1057517266
dbSNP (classic)	rs1057517266
ClinGen	rs1057517266
ebi	rs1057517266
HLI	rs1057517266
Exac	rs1057517266
Gnomad	rs1057517266
Varsome	rs1057517266
LitVar	rs1057517266
Map	rs1057517266
PheGenI	rs1057517266
Biobank	rs1057517266
1000 genomes	rs1057517266
hgdp	rs1057517266
ensembl	rs1057517266
geneview	rs1057517266
scholar	rs1057517266
google	rs1057517266
pharmgkb	rs1057517266
gwascentral	rs1057517266
openSNP	rs1057517266
23andMe	rs1057517266
SNPshot	rs1057517266
SNPdbe	rs1057517266
MSV3d	rs1057517266
GWAS Ctlg	rs1057517266

Max Magnitude

0

ClinVar
Risk	rs1057517266(GGC;GGC)
Alt	rs1057517266(GGC;GGC)
Reference	Rs1057517266(AGCA;AGCA)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91304325_91304328delAGCAinsGGC
CLNSRC
CLNACC	RCV000409598.1,