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rs797045120

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045120(C;C)
Make rs797045120(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position43158949
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs797045120
ebirs797045120
HLIrs797045120
Exacrs797045120
Varsomers797045120
Maprs797045120
PheGenIrs797045120
hapmaprs797045120
1000 genomesrs797045120
hgdprs797045120
ensemblrs797045120
gopubmedrs797045120
geneviewrs797045120
scholarrs797045120
googlers797045120
pharmgkbrs797045120
gwascentralrs797045120
openSNPrs797045120
23andMers797045120
23andMe allrs797045120
SNP Nexus

SNPshotrs797045120
SNPdbers797045120
MSV3drs797045120
GWAS Ctlgrs797045120
Max Magnitude0
ClinVar
Risk rs797045120(C;C)
Alt rs797045120(C;C)
Reference rs797045120(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 73
Variation info
Gene HGSNAT
CLNDBN Retinitis pigmentosa 73
Reversed 0
HGVS NC_000008.10:g.43014092G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190842.2,