rs267606645

Orientation

minus

Stabilized

minus

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

Make rs267606645(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

33013345

Gene

AK2

is a	snp
is	mentioned by
dbSNP	rs267606645
dbSNP (classic)	rs267606645
ClinGen	rs267606645
ebi	rs267606645
HLI	rs267606645
Exac	rs267606645
Gnomad	rs267606645
Varsome	rs267606645
LitVar	rs267606645
Map	rs267606645
PheGenI	rs267606645
Biobank	rs267606645
1000 genomes	rs267606645
hgdp	rs267606645
ensembl	rs267606645
geneview	rs267606645
scholar	rs267606645
google	rs267606645
pharmgkb	rs267606645
gwascentral	rs267606645
openSNP	rs267606645
23andMe	rs267606645
SNPshot	rs267606645
SNPdbe	rs267606645
MSV3d	rs267606645
GWAS Ctlg	rs267606645

Max Magnitude

0

ClinVar
Risk	Rs267606645(T;T)
Alt	Rs267606645(T;T)
Reference	Rs267606645(C;C)
Significance	Pathogenic
Disease	Reticular dysgenesis
Variation	info
Gene	AK2
CLNDBN	Reticular dysgenesis
Reversed	1
HGVS	NC_000001.10:g.33478946G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019920.27,