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rs768554986

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs768554986(C;C)
Make rs768554986(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position42686969
GeneCNTNAP1
is asnp
is mentioned by
dbSNPrs768554986
ebirs768554986
HLIrs768554986
Exacrs768554986
Varsomers768554986
Maprs768554986
PheGenIrs768554986
hapmaprs768554986
1000 genomesrs768554986
hgdprs768554986
ensemblrs768554986
gopubmedrs768554986
geneviewrs768554986
scholarrs768554986
googlers768554986
pharmgkbrs768554986
gwascentralrs768554986
openSNPrs768554986
23andMers768554986
23andMe allrs768554986
SNP Nexus

SNPshotrs768554986
SNPdbers768554986
MSV3drs768554986
GWAS Ctlgrs768554986
Max Magnitude0
ClinVar
Risk rs768554986(C;C)
Alt rs768554986(C;C)
Reference rs768554986(T;T)
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.40838987T>C
CLNSRC
CLNACC RCV000225022.1,