rs367543012

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;T)	3	carrier for Bloom syndrome mutation
(T;T)	6.6	Bloom syndrome; homozygote for mutation

Reference

GRCh38 38.1/141

Chromosome

15

Position

90769438

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs367543012
dbSNP (classic)	rs367543012
ClinGen	rs367543012
ebi	rs367543012
HLI	rs367543012
Exac	rs367543012
Gnomad	rs367543012
Varsome	rs367543012
LitVar	rs367543012
Map	rs367543012
PheGenI	rs367543012
Biobank	rs367543012
1000 genomes	rs367543012
hgdp	rs367543012
ensembl	rs367543012
geneview	rs367543012
scholar	rs367543012
google	rs367543012
pharmgkb	rs367543012
gwascentral	rs367543012
openSNP	rs367543012
23andMe	rs367543012
SNPshot	rs367543012
SNPdbe	rs367543012
MSV3d	rs367543012
GWAS Ctlg	rs367543012

Max Magnitude

6.6

BLM c.2407insT

ClinVar
Risk	Rs367543012(T;T)
Alt	Rs367543012(T;T)
Reference	Rs367543012(-;-)
Significance	Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91312668dupT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000035004.2,

[PMID 9837821] The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

[PMID 17407155] Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.