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rs878853221

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853221(A;A)
Make rs878853221(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position42690752
GeneCNTNAP1
is asnp
is mentioned by
dbSNPrs878853221
ebirs878853221
HLIrs878853221
Exacrs878853221
Varsomers878853221
Maprs878853221
PheGenIrs878853221
hapmaprs878853221
1000 genomesrs878853221
hgdprs878853221
ensemblrs878853221
gopubmedrs878853221
geneviewrs878853221
scholarrs878853221
googlers878853221
pharmgkbrs878853221
gwascentralrs878853221
openSNPrs878853221
23andMers878853221
23andMe allrs878853221
SNP Nexus

SNPshotrs878853221
SNPdbers878853221
MSV3drs878853221
GWAS Ctlgrs878853221
Max Magnitude0
ClinVar
Risk rs878853221(A;A)
Alt rs878853221(A;A)
Reference rs878853221(G;G)
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.40842770G>A
CLNSRC
CLNACC RCV000225022.1,