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rs751050956

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs751050956(-;-)
Make rs751050956(-;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position42693445
GeneCNTNAP1
is asnp
is mentioned by
dbSNPrs751050956
ebirs751050956
HLIrs751050956
Exacrs751050956
Varsomers751050956
Maprs751050956
PheGenIrs751050956
hapmaprs751050956
1000 genomesrs751050956
hgdprs751050956
ensemblrs751050956
gopubmedrs751050956
geneviewrs751050956
scholarrs751050956
googlers751050956
pharmgkbrs751050956
gwascentralrs751050956
openSNPrs751050956
23andMers751050956
23andMe allrs751050956
SNP Nexus

SNPshotrs751050956
SNPdbers751050956
MSV3drs751050956
GWAS Ctlgrs751050956
Max Magnitude0
ClinVar
Risk rs751050956(;)
Alt rs751050956(;)
Reference rs751050956(CT;CT)
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.40845463_40845464delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000186508.2,