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rs56126236

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs56126236(-;-)
Make rs56126236(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position44829444
GenePTCH2
is asnp
is mentioned by
dbSNPrs56126236
dbSNP (classic)rs56126236
ClinGenrs56126236
ebirs56126236
HLIrs56126236
Exacrs56126236
Gnomadrs56126236
Varsomers56126236
LitVarrs56126236
Maprs56126236
PheGenIrs56126236
Biobankrs56126236
1000 genomesrs56126236
hgdprs56126236
ensemblrs56126236
geneviewrs56126236
scholarrs56126236
googlers56126236
pharmgkbrs56126236
gwascentralrs56126236
openSNPrs56126236
23andMers56126236
SNPshotrs56126236
SNPdbers56126236
MSV3drs56126236
GWAS Ctlgrs56126236
Max Magnitude0
ClinVar
Risk rs56126236(-;-)
Alt rs56126236(-;-)
Reference Rs56126236(AG;AG)
Significance Pathogenic
Disease Medulloblastoma Gorlin syndrome
Variation info
Gene PTCH2
CLNDBN Medulloblastoma Gorlin syndrome
Reversed 0
HGVS NC_000001.10:g.45295116_45295117delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006520.5, RCV000490457.1,