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rs2064318

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2064318(C;C)
Make rs2064318(C;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position35509248
GeneTULP1
is asnp
is mentioned by
dbSNPrs2064318
ebirs2064318
HLIrs2064318
Exacrs2064318
Varsomers2064318
Maprs2064318
PheGenIrs2064318
hapmaprs2064318
1000 genomesrs2064318
hgdprs2064318
ensemblrs2064318
gopubmedrs2064318
geneviewrs2064318
scholarrs2064318
googlers2064318
pharmgkbrs2064318
gwascentralrs2064318
openSNPrs2064318
23andMers2064318
23andMe allrs2064318
SNP Nexus

SNPshotrs2064318
SNPdbers2064318
MSV3drs2064318
GWAS Ctlgrs2064318
GMAF0.1465
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene TULP1
allele G
frequency
sift TOLERATED
HuRef 1103652839703
Disease Association Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) (MIM:600132); an autosomal recessive form of vision defect.



ClinVar
Risk rs2064318(C;C)
Alt rs2064318(C;C)
Reference rs2064318(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TULP1
CLNDBN not specified
Reversed 1
HGVS NC_000006.11:g.35477025C>G
CLNSRC ClinVar Emory University
CLNACC RCV000080090.4,



[PMID 19339744OA-icon.png] Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.


GET Evidence
TULP1-K261N
aa_change Lys261Asn
aa_change_short K261N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.84393
summary