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rs786204800

From SNPedia

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Geno Mag Summary
(AGAT;AGAT) 0 common in clinvar
Make rs786204800(-;-)
Make rs786204800(-;AGAT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position42695519
GeneCNTNAP1
is asnp
is mentioned by
dbSNPrs786204800
ebirs786204800
HLIrs786204800
Exacrs786204800
Varsomers786204800
Maprs786204800
PheGenIrs786204800
hapmaprs786204800
1000 genomesrs786204800
hgdprs786204800
ensemblrs786204800
gopubmedrs786204800
geneviewrs786204800
scholarrs786204800
googlers786204800
pharmgkbrs786204800
gwascentralrs786204800
openSNPrs786204800
23andMers786204800
23andMe allrs786204800
SNP Nexus

SNPshotrs786204800
SNPdbers786204800
MSV3drs786204800
GWAS Ctlgrs786204800
Max Magnitude0
ClinVar
Risk rs786204800(;)
Alt rs786204800(;)
Reference rs786204800(AGAT;AGAT)
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.40847537_40847540delAGAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000169695.5,