rs200389141

Orientation

plus

Stabilized

plus

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

Make rs200389141(C;T)

Make rs200389141(T;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

90761015

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs200389141
dbSNP (classic)	rs200389141
ClinGen	rs200389141
ebi	rs200389141
HLI	rs200389141
Exac	rs200389141
Gnomad	rs200389141
Varsome	rs200389141
LitVar	rs200389141
Map	rs200389141
PheGenI	rs200389141
Biobank	rs200389141
1000 genomes	rs200389141
hgdp	rs200389141
ensembl	rs200389141
geneview	rs200389141
scholar	rs200389141
google	rs200389141
pharmgkb	rs200389141
gwascentral	rs200389141
openSNP	rs200389141
23andMe	rs200389141
SNPshot	rs200389141
SNPdbe	rs200389141
MSV3d	rs200389141
GWAS Ctlg	rs200389141

Max Magnitude

0

ClinVar
Risk	rs200389141(T;T)
Alt	rs200389141(T;T)
Reference	Rs200389141(C;C)
Significance	Pathogenic
Disease	not provided Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	not provided Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91304245C>T
CLNSRC	ClinVar GeneDx
CLNACC	RCV000115284.2, RCV000144577.2,