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rs786204799

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204799(-;-)
Make rs786204799(-;T)
Make rs786204799(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position42695537
GeneCNTNAP1
is asnp
is mentioned by
dbSNPrs786204799
ebirs786204799
HLIrs786204799
Exacrs786204799
Varsomers786204799
Maprs786204799
PheGenIrs786204799
hapmaprs786204799
1000 genomesrs786204799
hgdprs786204799
ensemblrs786204799
gopubmedrs786204799
geneviewrs786204799
scholarrs786204799
googlers786204799
pharmgkbrs786204799
gwascentralrs786204799
openSNPrs786204799
23andMers786204799
23andMe allrs786204799
SNP Nexus

SNPshotrs786204799
SNPdbers786204799
MSV3drs786204799
GWAS Ctlgrs786204799
Max Magnitude0
ClinVar
Risk rs786204799(T;T)
Alt rs786204799(T;T)
Reference rs786204799(;)
Significance Pathogenic
Disease Lethal congenital contracture syndrome 7
Variation info
Gene CNTNAP1
CLNDBN Lethal congenital contracture syndrome 7
Reversed 0
HGVS NC_000017.10:g.40847555dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000169694.3,