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rs786204843

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204843(A;G)
Make rs786204843(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position81845742
GeneP4HB
is asnp
is mentioned by
dbSNPrs786204843
ebirs786204843
HLIrs786204843
Exacrs786204843
Varsomers786204843
Maprs786204843
PheGenIrs786204843
hapmaprs786204843
1000 genomesrs786204843
hgdprs786204843
ensemblrs786204843
gopubmedrs786204843
geneviewrs786204843
scholarrs786204843
googlers786204843
pharmgkbrs786204843
gwascentralrs786204843
openSNPrs786204843
23andMers786204843
23andMe allrs786204843
SNP Nexus

SNPshotrs786204843
SNPdbers786204843
MSV3drs786204843
GWAS Ctlgrs786204843
Max Magnitude0
ClinVar
Risk rs786204843(G;G)
Alt rs786204843(G;G)
Reference rs786204843(A;A)
Significance Pathogenic
Disease Cole Carpenter syndrome
Variation info
Gene P4HB
CLNDBN Cole Carpenter syndrome
Reversed 1
HGVS NC_000017.10:g.79803618T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000169753.3,