rs121912473

Orientation

plus

Stabilized

plus

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

Make rs121912473(AA;TT)

Make rs121912473(TT;TT)

Reference

GRCh37.p5 37.3/135

Chromosome

9

Position

5070026

Gene	INSL6, JAK2

is a	snp
is	mentioned by
dbSNP	rs121912473
dbSNP (classic)	rs121912473
ClinGen	rs121912473
ebi	rs121912473
HLI	rs121912473
Exac	rs121912473
Gnomad	rs121912473
Varsome	rs121912473
LitVar	rs121912473
Map	rs121912473
PheGenI	rs121912473
Biobank	rs121912473
1000 genomes	rs121912473
hgdp	rs121912473
ensembl	rs121912473
geneview	rs121912473
scholar	rs121912473
google	rs121912473
pharmgkb	rs121912473
gwascentral	rs121912473
openSNP	rs121912473
23andMe	rs121912473
SNPshot	rs121912473
SNPdbe	rs121912473
MSV3d	rs121912473
GWAS Ctlg	rs121912473

Max Magnitude

0

OMIM	147796
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912473(TT;TT)
Alt	rs121912473(TT;TT)
Reference	Rs121912473(AA;AA)
Significance	Pathogenic
Disease	ERYTHROCYTOSIS
Variation	info
Gene	JAK2
CLNDBN	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
Reversed	0
HGVS	NC_000009.11:g.5070026_5070027delAAinsTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015774.5,