rs786204524

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAAGA;AAAGA)	0	common in clinvar
(AGAAA;AGAAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs786204524(-;-)

Make rs786204524(-;AAAGA)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

90754842

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs786204524
dbSNP (classic)	rs786204524
ClinGen	rs786204524
ebi	rs786204524
HLI	rs786204524
Exac	rs786204524
Gnomad	rs786204524
Varsome	rs786204524
LitVar	rs786204524
Map	rs786204524
PheGenI	rs786204524
Biobank	rs786204524
1000 genomes	rs786204524
hgdp	rs786204524
ensembl	rs786204524
geneview	rs786204524
scholar	rs786204524
google	rs786204524
pharmgkb	rs786204524
gwascentral	rs786204524
openSNP	rs786204524
23andMe	rs786204524
SNPshot	rs786204524
SNPdbe	rs786204524
MSV3d	rs786204524
GWAS Ctlg	rs786204524

Max Magnitude

0

ClinVar
Risk	rs786204524(-;-) Rs786204524(AGAAA;AGAAA)
Alt	rs786204524(-;-) Rs786204524(AGAAA;AGAAA)
Reference	Rs786204524(AAAGA;AAAGA)
Significance	Probable-Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91298072_91298076delAAAGA
CLNSRC	Counsyl
CLNACC	RCV000169224.1,