rs786204799

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype

Make rs786204799(-;T)

Make rs786204799(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

42695537

Gene

CNTNAP1

is a	snp
is	mentioned by
dbSNP	rs786204799
dbSNP (classic)	rs786204799
ClinGen	rs786204799
ebi	rs786204799
HLI	rs786204799
Exac	rs786204799
Gnomad	rs786204799
Varsome	rs786204799
LitVar	rs786204799
Map	rs786204799
PheGenI	rs786204799
Biobank	rs786204799
1000 genomes	rs786204799
hgdp	rs786204799
ensembl	rs786204799
geneview	rs786204799
scholar	rs786204799
google	rs786204799
pharmgkb	rs786204799
gwascentral	rs786204799
openSNP	rs786204799
23andMe	rs786204799
SNPshot	rs786204799
SNPdbe	rs786204799
MSV3d	rs786204799
GWAS Ctlg	rs786204799

Max Magnitude

0

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,