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

rs786204798

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204798(C;T)
Make rs786204798(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position48768972
GeneADCY6
is asnp
is mentioned by
dbSNPrs786204798
ebirs786204798
HLIrs786204798
Exacrs786204798
Varsomers786204798
Maprs786204798
PheGenIrs786204798
hapmaprs786204798
1000 genomesrs786204798
hgdprs786204798
ensemblrs786204798
gopubmedrs786204798
geneviewrs786204798
scholarrs786204798
googlers786204798
pharmgkbrs786204798
gwascentralrs786204798
openSNPrs786204798
23andMers786204798
23andMe allrs786204798
SNP Nexus

SNPshotrs786204798
SNPdbers786204798
MSV3drs786204798
GWAS Ctlgrs786204798
Max Magnitude0
ClinVar
Risk rs786204798(T;T)
Alt rs786204798(T;T)
Reference rs786204798(C;C)
Significance Pathogenic
Disease Lethal congenital contracture syndrome 8
Variation info
Gene ADCY6
CLNDBN Lethal congenital contracture syndrome 8
Reversed 1
HGVS NC_000012.11:g.49162755G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000169693.3,