rs267606646

Orientation

minus

Stabilized

minus

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

Make rs267606646(A;T)

Make rs267606646(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

33013204

Gene

AK2

is a	snp
is	mentioned by
dbSNP	rs267606646
dbSNP (classic)	rs267606646
ClinGen	rs267606646
ebi	rs267606646
HLI	rs267606646
Exac	rs267606646
Gnomad	rs267606646
Varsome	rs267606646
LitVar	rs267606646
Map	rs267606646
PheGenI	rs267606646
Biobank	rs267606646
1000 genomes	rs267606646
hgdp	rs267606646
ensembl	rs267606646
geneview	rs267606646
scholar	rs267606646
google	rs267606646
pharmgkb	rs267606646
gwascentral	rs267606646
openSNP	rs267606646
23andMe	rs267606646
SNPshot	rs267606646
SNPdbe	rs267606646
MSV3d	rs267606646
GWAS Ctlg	rs267606646

Max Magnitude

0

ClinVar
Risk	rs267606646(T;T)
Alt	rs267606646(T;T)
Reference	Rs267606646(A;A)
Significance	Pathogenic
Disease	Reticular dysgenesis
Variation	info
Gene	AK2
CLNDBN	Reticular dysgenesis
Reversed	1
HGVS	NC_000001.10:g.33478805T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019923.27,