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rs7604639

From SNPedia

Orientationplus
Stabilizedplus
Make rs7604639(A;A)
Make rs7604639(A;G)
Make rs7604639(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position111994351
GeneMERTK
is asnp
is mentioned by
dbSNPrs7604639
ebirs7604639
HLIrs7604639
Exacrs7604639
Varsomers7604639
Maprs7604639
PheGenIrs7604639
hapmaprs7604639
1000 genomesrs7604639
hgdprs7604639
ensemblrs7604639
gopubmedrs7604639
geneviewrs7604639
scholarrs7604639
googlers7604639
pharmgkbrs7604639
gwascentralrs7604639
openSNPrs7604639
23andMers7604639
23andMe allrs7604639
SNP Nexus

SNPshotrs7604639
SNPdbers7604639
MSV3drs7604639
GWAS Ctlgrs7604639
GMAF0.4821
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MERTK
allele A
frequency 0.317
sift TOLERATED
HuRef 1103658185370
Disease Association Defects in MERTK are a cause of retinitis pigmentosa (RP) (MIM:268000). Retinitis pigmentosa is a group of human diseases that leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.



GET Evidence
MERTK-R466K
aa_change Arg466Lys
aa_change_short R466K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.635434
summary