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rs2230515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2230515(A;G)
Make rs2230515(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position111997424
GeneMERTK
is asnp
is mentioned by
dbSNPrs2230515
dbSNP (old)rs2230515
ClinGenrs2230515
ebirs2230515
HLIrs2230515
Exacrs2230515
Gnomadrs2230515
Varsomers2230515
Maprs2230515
PheGenIrs2230515
Biobankrs2230515
1000 genomesrs2230515
hgdprs2230515
ensemblrs2230515
gopubmedrs2230515
geneviewrs2230515
scholarrs2230515
googlers2230515
pharmgkbrs2230515
gwascentralrs2230515
openSNPrs2230515
23andMers2230515
23andMe allrs2230515
SNP Nexus

SNPshotrs2230515
SNPdbers2230515
MSV3drs2230515
GWAS Ctlgrs2230515
Merged fromRs3811635
GMAF0.4816
Max Magnitude0
? (A;A) (A;G) (G;G) 28
GET Evidence
MERTK-I518V
aa_change Ile518Val
aa_change_short I518V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.635341
summary


ClinVar
Risk rs2230515(G;G)
Alt rs2230515(G;G)
Reference Rs2230515(A;A)
Significance Probable-non-pathogenic
Disease Retinitis Pigmentosa
Variation info
Gene MERTK
CLNDBN Retinitis Pigmentosa, Recessive
Reversed 0
HGVS NC_000002.11:g.112755001A>G
CLNSRC
CLNACC RCV000354460.1,