Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204704

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204704(A;A)
Make rs786204704(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position92528433
GenePEX1, RBM48
is asnp
is mentioned by
dbSNPrs786204704
ebirs786204704
HLIrs786204704
Exacrs786204704
Varsomers786204704
Maprs786204704
PheGenIrs786204704
hapmaprs786204704
1000 genomesrs786204704
hgdprs786204704
ensemblrs786204704
gopubmedrs786204704
geneviewrs786204704
scholarrs786204704
googlers786204704
pharmgkbrs786204704
gwascentralrs786204704
openSNPrs786204704
23andMers786204704
23andMe allrs786204704
SNP Nexus

SNPshotrs786204704
SNPdbers786204704
MSV3drs786204704
GWAS Ctlgrs786204704
Max Magnitude0
ClinVar
Risk rs786204704(A;A)
Alt rs786204704(A;A)
Reference rs786204704(G;G)
Significance Probable-Pathogenic
Disease Zellweger syndrome
Variation info
Gene PEX1 RBM48
CLNDBN Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92157747C>T
CLNSRC
CLNACC RCV000169518.1,