rs549932754

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(I;I)	0	common genotype

Make rs549932754(-;GGGCCC)

Make rs549932754(GGGCCC;GGGCCC)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

3770753

Gene

RAX2

is a	snp
is	mentioned by
dbSNP	rs549932754
dbSNP (classic)	rs549932754
ClinGen	rs549932754
ebi	rs549932754
HLI	rs549932754
Exac	rs549932754
Gnomad	rs549932754
Varsome	rs549932754
LitVar	rs549932754
Map	rs549932754
PheGenI	rs549932754
Biobank	rs549932754
1000 genomes	rs549932754
hgdp	rs549932754
ensembl	rs549932754
geneview	rs549932754
scholar	rs549932754
google	rs549932754
pharmgkb	rs549932754
gwascentral	rs549932754
openSNP	rs549932754
23andMe	rs549932754
SNPshot	rs549932754
SNPdbe	rs549932754
MSV3d	rs549932754
GWAS Ctlg	rs549932754

Max Magnitude

0

ClinVar
Risk	rs549932754(CCCGGG;CCCGGG)
Alt	rs549932754(CCCGGG;CCCGGG)
Reference	Rs549932754(-;-)
Significance	Pathogenic
Disease	Cone-rod dystrophy 11
Variation	info
Gene	RAX2
CLNDBN	Cone-rod dystrophy 11
Reversed	0
HGVS	NC_000019.9:g.3770752_3770757dupCCCGGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001301.6,