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rs778862698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs778862698(A;G)
Make rs778862698(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position136872196
GenePEX7
is asnp
is mentioned by
dbSNPrs778862698
dbSNP (classic)rs778862698
ClinGenrs778862698
ebirs778862698
HLIrs778862698
Exacrs778862698
Gnomadrs778862698
Varsomers778862698
LitVarrs778862698
Maprs778862698
PheGenIrs778862698
Biobankrs778862698
1000 genomesrs778862698
hgdprs778862698
ensemblrs778862698
geneviewrs778862698
scholarrs778862698
googlers778862698
pharmgkbrs778862698
gwascentralrs778862698
openSNPrs778862698
23andMers778862698
SNPshotrs778862698
SNPdbers778862698
MSV3drs778862698
GWAS Ctlgrs778862698
Max Magnitude0
ClinVar
Risk rs778862698(G;G) rs778862698(T;T)
Alt rs778862698(G;G) rs778862698(T;T)
Reference Rs778862698(A;A)
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.137193334A>G
CLNSRC
CLNACC RCV000409011.1,