rs747281324

Orientation

plus

Stabilized

plus

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

Make rs747281324(A;G)

Make rs747281324(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

90763098

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs747281324
dbSNP (classic)	rs747281324
ClinGen	rs747281324
ebi	rs747281324
HLI	rs747281324
Exac	rs747281324
Gnomad	rs747281324
Varsome	rs747281324
LitVar	rs747281324
Map	rs747281324
PheGenI	rs747281324
Biobank	rs747281324
1000 genomes	rs747281324
hgdp	rs747281324
ensembl	rs747281324
geneview	rs747281324
scholar	rs747281324
google	rs747281324
pharmgkb	rs747281324
gwascentral	rs747281324
openSNP	rs747281324
23andMe	rs747281324
SNPshot	rs747281324
SNPdbe	rs747281324
MSV3d	rs747281324
GWAS Ctlg	rs747281324

Max Magnitude

0

ClinVar
Risk	rs747281324(G;G)
Alt	rs747281324(G;G)
Reference	Rs747281324(A;A)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91306328A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169338.1,