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rs1057520590

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520590(C;C)
Make rs1057520590(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95482204
GenePTCH1
is asnp
is mentioned by
dbSNPrs1057520590
dbSNP (old)rs1057520590
ClinGenrs1057520590
ebirs1057520590
HLIrs1057520590
Exacrs1057520590
Gnomadrs1057520590
Varsomers1057520590
Maprs1057520590
PheGenIrs1057520590
Biobankrs1057520590
1000 genomesrs1057520590
hgdprs1057520590
ensemblrs1057520590
gopubmedrs1057520590
geneviewrs1057520590
scholarrs1057520590
googlers1057520590
pharmgkbrs1057520590
gwascentralrs1057520590
openSNPrs1057520590
23andMers1057520590
23andMe allrs1057520590
SNPshotrs1057520590
SNPdbers1057520590
MSV3drs1057520590
GWAS Ctlgrs1057520590
Max Magnitude0
ClinVar
Risk rs1057520590(C;C)
Alt rs1057520590(C;C)
Reference Rs1057520590(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene PTCH1
CLNDBN not provided
Reversed 1
HGVS NC_000009.11:g.98244486C>G
CLNSRC
CLNACC RCV000442382.1,