rs104894102

Orientation

minus

Stabilized

minus

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

Make rs104894102(C;T)

Make rs104894102(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127871828

Gene

AK1

is a	snp
is	mentioned by
dbSNP	rs104894102
dbSNP (classic)	rs104894102
ClinGen	rs104894102
ebi	rs104894102
HLI	rs104894102
Exac	rs104894102
Gnomad	rs104894102
Varsome	rs104894102
LitVar	rs104894102
Map	rs104894102
PheGenI	rs104894102
Biobank	rs104894102
1000 genomes	rs104894102
hgdp	rs104894102
ensembl	rs104894102
geneview	rs104894102
scholar	rs104894102
google	rs104894102
pharmgkb	rs104894102
gwascentral	rs104894102
openSNP	rs104894102
23andMe	rs104894102
SNPshot	rs104894102
SNPdbe	rs104894102
MSV3d	rs104894102
GWAS Ctlg	rs104894102

Max Magnitude

0

OMIM	103000
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894102(T;T)
Alt	rs104894102(T;T)
Reference	Rs104894102(C;C)
Significance	Pathogenic
Disease	Adenylate kinase deficiency
Variation	info
Gene	AK1
CLNDBN	Adenylate kinase deficiency, hemolytic anemia due to
Reversed	1
HGVS	NC_000009.11:g.130634107G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019926.27,