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rs267608253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608253(A;A)
Make rs267608253(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136822796
GenePEX7
is asnp
is mentioned by
dbSNPrs267608253
dbSNP (old)rs267608253
ClinGenrs267608253
ebirs267608253
HLIrs267608253
Exacrs267608253
Gnomadrs267608253
Varsomers267608253
Maprs267608253
PheGenIrs267608253
Biobankrs267608253
1000 genomesrs267608253
hgdprs267608253
ensemblrs267608253
gopubmedrs267608253
geneviewrs267608253
scholarrs267608253
googlers267608253
pharmgkbrs267608253
gwascentralrs267608253
openSNPrs267608253
23andMers267608253
23andMe allrs267608253
SNPshotrs267608253
SNPdbers267608253
MSV3drs267608253
GWAS Ctlgrs267608253
Max Magnitude0
ClinVar
Risk rs267608253(A;A) rs267608253(C;C)
Alt rs267608253(A;A) rs267608253(C;C)
Reference Rs267608253(G;G)
Significance Probable-Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137143934G>C
CLNSRC
CLNACC RCV000409059.1,