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rs786204544

From SNPedia

Orientationminus
Geno Mag Summary
(ACCAA;ACCAA) 0 common in clinvar
Make rs786204544(-;-)
Make rs786204544(-;ACCAA)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position92517868
GenePEX1
is asnp
is mentioned by
dbSNPrs786204544
ebirs786204544
HLIrs786204544
Exacrs786204544
Varsomers786204544
Maprs786204544
PheGenIrs786204544
hapmaprs786204544
1000 genomesrs786204544
hgdprs786204544
ensemblrs786204544
gopubmedrs786204544
geneviewrs786204544
scholarrs786204544
googlers786204544
pharmgkbrs786204544
gwascentralrs786204544
openSNPrs786204544
23andMers786204544
23andMe allrs786204544
SNP Nexus

SNPshotrs786204544
SNPdbers786204544
MSV3drs786204544
GWAS Ctlgrs786204544
Max Magnitude0
ClinVar
Risk rs786204544(;)
Alt rs786204544(;)
Reference rs786204544(ACCAA;ACCAA)
Significance Probable-Pathogenic
Disease Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92147182_92147186delTTGGT
CLNSRC Counsyl
CLNACC RCV000169257.1,