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rs138911275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138911275(A;A)
Make rs138911275(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position95458026
GenePTCH1
is asnp
is mentioned by
dbSNPrs138911275
ebirs138911275
HLIrs138911275
Exacrs138911275
Varsomers138911275
Maprs138911275
PheGenIrs138911275
hapmaprs138911275
1000 genomesrs138911275
hgdprs138911275
ensemblrs138911275
gopubmedrs138911275
geneviewrs138911275
scholarrs138911275
googlers138911275
pharmgkbrs138911275
gwascentralrs138911275
openSNPrs138911275
23andMers138911275
23andMe allrs138911275
SNP Nexus

SNPshotrs138911275
SNPdbers138911275
MSV3drs138911275
GWAS Ctlgrs138911275
Merged fromRs28936405
Max Magnitude0
ClinVar
Risk rs138911275(A;A)
Alt rs138911275(A;A)
Reference rs138911275(G;G)
Significance Pathogenic
Disease Holoprosencephaly 7 not provided Gorlin syndrome not specified Holoprosencephaly sequence
Variation info
Gene PTCH1
CLNDBN Holoprosencephaly 7 not provided Gorlin syndrome not specified Holoprosencephaly sequence
Reversed 0
HGVS NC_000009.11:g.98220308G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008707.3, RCV000034570.1, RCV000119145.4, RCV000121888.1, RCV000148761.1,