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rs869025270

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025270(A;C)
Make rs869025270(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position95467344
GeneLOC100507346, PTCH1
is asnp
is mentioned by
dbSNPrs869025270
ebirs869025270
HLIrs869025270
Exacrs869025270
Varsomers869025270
Maprs869025270
PheGenIrs869025270
hapmaprs869025270
1000 genomesrs869025270
hgdprs869025270
ensemblrs869025270
gopubmedrs869025270
geneviewrs869025270
scholarrs869025270
googlers869025270
pharmgkbrs869025270
gwascentralrs869025270
openSNPrs869025270
23andMers869025270
23andMe allrs869025270
SNP Nexus

SNPshotrs869025270
SNPdbers869025270
MSV3drs869025270
GWAS Ctlgrs869025270
Max Magnitude0
ClinVar
Risk rs869025270(C;C)
Alt rs869025270(C;C)
Reference rs869025270(A;A)
Significance Probable-Pathogenic
Disease Anophthalmia - microphthalmia
Variation info
Gene LOC100507346 PTCH1
CLNDBN Anophthalmia - microphthalmia
Reversed 1
HGVS NC_000009.11:g.98229626T>G
CLNSRC
CLNACC RCV000207370.1,