rs267606648

Orientation

minus

Stabilized

minus

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

Make rs267606648(A;A)

Make rs267606648(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

33021616

Gene

AK2

is a	snp
is	mentioned by
dbSNP	rs267606648
dbSNP (classic)	rs267606648
ClinGen	rs267606648
ebi	rs267606648
HLI	rs267606648
Exac	rs267606648
Gnomad	rs267606648
Varsome	rs267606648
LitVar	rs267606648
Map	rs267606648
PheGenI	rs267606648
Biobank	rs267606648
1000 genomes	rs267606648
hgdp	rs267606648
ensembl	rs267606648
geneview	rs267606648
scholar	rs267606648
google	rs267606648
pharmgkb	rs267606648
gwascentral	rs267606648
openSNP	rs267606648
23andMe	rs267606648
SNPshot	rs267606648
SNPdbe	rs267606648
MSV3d	rs267606648
GWAS Ctlg	rs267606648

Max Magnitude

0

ClinVar
Risk	rs267606648(A;A) rs267606648(T;T)
Alt	rs267606648(A;A) rs267606648(T;T)
Reference	Rs267606648(C;C)
Significance	Pathogenic
Disease	Reticular dysgenesis
Variation	info
Gene	AK2
CLNDBN	Reticular dysgenesis
Reversed	1
HGVS	NC_000001.10:g.33487217G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019922.27,