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rs549932754

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs549932754(-;GGGCCC)
Make rs549932754(GGGCCC;GGGCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position3770753
GeneRAX2
is asnp
is mentioned by
dbSNPrs549932754
ClinGenrs549932754
ebirs549932754
HLIrs549932754
Exacrs549932754
Varsomers549932754
Maprs549932754
PheGenIrs549932754
hapmaprs549932754
1000 genomesrs549932754
hgdprs549932754
ensemblrs549932754
gopubmedrs549932754
geneviewrs549932754
scholarrs549932754
googlers549932754
pharmgkbrs549932754
gwascentralrs549932754
openSNPrs549932754
23andMers549932754
23andMe allrs549932754
SNP Nexus

SNPshotrs549932754
SNPdbers549932754
MSV3drs549932754
GWAS Ctlgrs549932754
Max Magnitude0
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,