rs751050956

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar

Make rs751050956(-;-)

Make rs751050956(-;CT)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

42693445

Gene

CNTNAP1

is a	snp
is	mentioned by
dbSNP	rs751050956
dbSNP (classic)	rs751050956
ClinGen	rs751050956
ebi	rs751050956
HLI	rs751050956
Exac	rs751050956
Gnomad	rs751050956
Varsome	rs751050956
LitVar	rs751050956
Map	rs751050956
PheGenI	rs751050956
Biobank	rs751050956
1000 genomes	rs751050956
hgdp	rs751050956
ensembl	rs751050956
geneview	rs751050956
scholar	rs751050956
google	rs751050956
pharmgkb	rs751050956
gwascentral	rs751050956
openSNP	rs751050956
23andMe	rs751050956
SNPshot	rs751050956
SNPdbe	rs751050956
MSV3d	rs751050956
GWAS Ctlg	rs751050956

Max Magnitude

0

ClinVar
Risk	rs751050956(-;-)
Alt	rs751050956(-;-)
Reference	Rs751050956(CT;CT)
Significance	Pathogenic
Disease	Lethal congenital contracture syndrome 7 not provided
Variation	info
Gene	CNTNAP1
CLNDBN	Lethal congenital contracture syndrome 7 not provided
Reversed	0
HGVS	NC_000017.10:g.40845463_40845464delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000186508.2, RCV000492827.1,