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rs387907314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907314(C;T)
Make rs387907314(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position112021555
GeneMERTK
is asnp
is mentioned by
dbSNPrs387907314
ebirs387907314
HLIrs387907314
Exacrs387907314
Varsomers387907314
Maprs387907314
PheGenIrs387907314
hapmaprs387907314
1000 genomesrs387907314
hgdprs387907314
ensemblrs387907314
gopubmedrs387907314
geneviewrs387907314
scholarrs387907314
googlers387907314
pharmgkbrs387907314
gwascentralrs387907314
openSNPrs387907314
23andMers387907314
23andMe allrs387907314
SNP Nexus

SNPshotrs387907314
SNPdbers387907314
MSV3drs387907314
GWAS Ctlgrs387907314
Max Magnitude0
ClinVar
Risk rs387907314(T;T)
Alt rs387907314(T;T)
Reference rs387907314(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 38
Variation info
Gene MERTK
CLNDBN Retinitis pigmentosa 38
Reversed 0
HGVS NC_000002.11:g.112779132C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030845.2,