Have questions? Visit https://www.reddit.com/r/SNPedia

rs200536754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200536754(-;-)
Make rs200536754(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position55867067
GeneEFEMP1
is asnp
is mentioned by
dbSNPrs200536754
dbSNP (old)rs200536754
ClinGenrs200536754
ebirs200536754
HLIrs200536754
Exacrs200536754
Gnomadrs200536754
Varsomers200536754
Maprs200536754
PheGenIrs200536754
Biobankrs200536754
1000 genomesrs200536754
hgdprs200536754
ensemblrs200536754
gopubmedrs200536754
geneviewrs200536754
scholarrs200536754
googlers200536754
pharmgkbrs200536754
gwascentralrs200536754
openSNPrs200536754
23andMers200536754
23andMe allrs200536754
SNP Nexus

SNPshotrs200536754
SNPdbers200536754
MSV3drs200536754
GWAS Ctlgrs200536754
Max Magnitude0
ClinVar
Risk rs200536754(-;-)
Alt rs200536754(-;-)
Reference Rs200536754(A;A)
Significance Other
Disease not specified Doyne honeycomb retinal dystrophy
Variation info
Gene EFEMP1
CLNDBN not specified Doyne honeycomb retinal dystrophy
Reversed 0
HGVS NC_000002.11:g.56094202delA
CLNSRC
CLNACC RCV000174268.2, RCV000348125.1,