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rs3811635

From SNPedia

Merged intors2230515
Orientationplus
Stabilizedplus
Make rs3811635(A;A)
Make rs3811635(A;G)
Make rs3811635(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position111997424
GeneMERTK
is asnp
is mentioned by
dbSNPrs3811635
ebirs3811635
HLIrs3811635
Exacrs3811635
Varsomers3811635
Maprs3811635
PheGenIrs3811635
hapmaprs3811635
1000 genomesrs3811635
hgdprs3811635
ensemblrs3811635
gopubmedrs3811635
geneviewrs3811635
scholarrs3811635
googlers3811635
pharmgkbrs3811635
gwascentralrs3811635
openSNPrs3811635
23andMers3811635
23andMe allrs3811635
SNP Nexus

SNPshotrs3811635
SNPdbers3811635
MSV3drs3811635
GWAS Ctlgrs3811635
StatusMerged into rs2230515
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene MERTK
allele G
frequency 0.317
sift TOLERATED
HuRef 1103658185359
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.