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rs115556836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs115556836(A;A)
Make rs115556836(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position95468818
GenePTCH1, RPL7L1P3
is asnp
is mentioned by
dbSNPrs115556836
ebirs115556836
HLIrs115556836
Exacrs115556836
Varsomers115556836
Maprs115556836
PheGenIrs115556836
hapmaprs115556836
1000 genomesrs115556836
hgdprs115556836
ensemblrs115556836
gopubmedrs115556836
geneviewrs115556836
scholarrs115556836
googlers115556836
pharmgkbrs115556836
gwascentralrs115556836
openSNPrs115556836
23andMers115556836
23andMe allrs115556836
SNP Nexus

SNPshotrs115556836
SNPdbers115556836
MSV3drs115556836
GWAS Ctlgrs115556836
Merged fromRs28936404
GMAF0.003673
Max Magnitude0
OMIM601309
Desc
Variant0012
Relatedalso
ClinVar
Risk rs115556836(A;A)
Alt rs115556836(A;A)
Reference rs115556836(G;G)
Significance Pathogenic
Disease Holoprosencephaly 7 not provided not specified Gorlin syndrome
Variation info
Gene LOC100507346 PTCH1
CLNDBN Holoprosencephaly 7 not provided not specified Gorlin syndrome
Reversed 0
HGVS NC_000009.11:g.98231100G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008705.3, RCV000034564.1, RCV000078462.5, RCV000206005.2,