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rs199476092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476092(A;G)
Make rs199476092(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position95467197
GenePTCH1, RPL7L1P3
is asnp
is mentioned by
dbSNPrs199476092
ebirs199476092
HLIrs199476092
Exacrs199476092
Varsomers199476092
Maprs199476092
PheGenIrs199476092
hapmaprs199476092
1000 genomesrs199476092
hgdprs199476092
ensemblrs199476092
gopubmedrs199476092
geneviewrs199476092
scholarrs199476092
googlers199476092
pharmgkbrs199476092
gwascentralrs199476092
openSNPrs199476092
23andMers199476092
23andMe allrs199476092
SNP Nexus

SNPshotrs199476092
SNPdbers199476092
MSV3drs199476092
GWAS Ctlgrs199476092
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs199476092(G;G)
Alt rs199476092(G;G)
Reference rs199476092(A;A)
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 1
HGVS NC_000009.11:g.98229479T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008706.3, RCV000034565.1, RCV000121886.1, RCV000123010.4,