rs137853153

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	carrier of likely Bloom syndrome allele
(T;T)	6.6	Bloom syndrome; homozygote for mutation

Reference

GRCh38 38.1/141

Chromosome

15

Position

90794254

Gene

BLM

is a	snp
is	mentioned by
dbSNP	rs137853153
dbSNP (classic)	rs137853153
ClinGen	rs137853153
ebi	rs137853153
HLI	rs137853153
Exac	rs137853153
Gnomad	rs137853153
Varsome	rs137853153
LitVar	rs137853153
Map	rs137853153
PheGenI	rs137853153
Biobank	rs137853153
1000 genomes	rs137853153
hgdp	rs137853153
ensembl	rs137853153
geneview	rs137853153
scholar	rs137853153
google	rs137853153
pharmgkb	rs137853153
gwascentral	rs137853153
openSNP	rs137853153
23andMe	rs137853153
SNPshot	rs137853153
SNPdbe	rs137853153
MSV3d	rs137853153
GWAS Ctlg	rs137853153

Max Magnitude

6.6

aka c.3107G>T (p.Cys1036Phe)

OMIM	604610
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs137853153(T;T)
Alt	Rs137853153(T;T)
Reference	Rs137853153(G;G)
Significance	Pathogenic
Disease	Bloom syndrome
Variation	info
Gene	BLM
CLNDBN	Bloom syndrome
Reversed	0
HGVS	NC_000015.9:g.91337484G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005790.3,