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rs1057517982

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517982(G;T)
Make rs1057517982(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position54123561
GenePRPF31
is asnp
is mentioned by
dbSNPrs1057517982
dbSNP (old)rs1057517982
ClinGenrs1057517982
ebirs1057517982
HLIrs1057517982
Exacrs1057517982
Gnomadrs1057517982
Varsomers1057517982
Maprs1057517982
PheGenIrs1057517982
Biobankrs1057517982
1000 genomesrs1057517982
hgdprs1057517982
ensemblrs1057517982
gopubmedrs1057517982
geneviewrs1057517982
scholarrs1057517982
googlers1057517982
pharmgkbrs1057517982
gwascentralrs1057517982
openSNPrs1057517982
23andMers1057517982
23andMe allrs1057517982
SNPshotrs1057517982
SNPdbers1057517982
MSV3drs1057517982
GWAS Ctlgrs1057517982
Max Magnitude0
ClinVar
Risk rs1057517982(T;T)
Alt rs1057517982(T;T)
Reference Rs1057517982(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene PRPF31
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.54626940G>T
CLNSRC
CLNACC RCV000414191.1,