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rs7604639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs7604639(A;A)
Make rs7604639(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position111994351
GeneMERTK
is asnp
is mentioned by
dbSNPrs7604639
dbSNP (classic)rs7604639
ClinGenrs7604639
ebirs7604639
HLIrs7604639
Exacrs7604639
Gnomadrs7604639
Varsomers7604639
LitVarrs7604639
Maprs7604639
PheGenIrs7604639
Biobankrs7604639
1000 genomesrs7604639
hgdprs7604639
ensemblrs7604639
geneviewrs7604639
scholarrs7604639
googlers7604639
pharmgkbrs7604639
gwascentralrs7604639
openSNPrs7604639
23andMers7604639
SNPshotrs7604639
SNPdbers7604639
MSV3drs7604639
GWAS Ctlgrs7604639
GMAF0.4821
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs7604639(A;A)
Alt rs7604639(A;A)
Reference Rs7604639(G;G)
Significance Probable-non-pathogenic
Disease Retinitis Pigmentosa
Variation info
Gene MERTK
CLNDBN Retinitis Pigmentosa, Recessive
Reversed 0
HGVS NC_000002.11:g.112751928G>A
CLNSRC
CLNACC RCV000397330.1,