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rs754875934

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs754875934(A;T)
Make rs754875934(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position43158710
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs754875934
ebirs754875934
HLIrs754875934
Exacrs754875934
Varsomers754875934
Maprs754875934
PheGenIrs754875934
hapmaprs754875934
1000 genomesrs754875934
hgdprs754875934
ensemblrs754875934
gopubmedrs754875934
geneviewrs754875934
scholarrs754875934
googlers754875934
pharmgkbrs754875934
gwascentralrs754875934
openSNPrs754875934
23andMers754875934
23andMe allrs754875934
SNP Nexus

SNPshotrs754875934
SNPdbers754875934
MSV3drs754875934
GWAS Ctlgrs754875934
Max Magnitude0
ClinVar
Risk rs754875934(T;T)
Alt rs754875934(T;T)
Reference rs754875934(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 73
Variation info
Gene HGSNAT
CLNDBN Retinitis pigmentosa 73
Reversed 0
HGVS NC_000008.10:g.43013853A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190843.2,