rs768554986

Orientation

plus

Stabilized

plus

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

Make rs768554986(C;C)

Make rs768554986(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

17

Position

42686969

Gene

CNTNAP1

is a	snp
is	mentioned by
dbSNP	rs768554986
dbSNP (classic)	rs768554986
ClinGen	rs768554986
ebi	rs768554986
HLI	rs768554986
Exac	rs768554986
Gnomad	rs768554986
Varsome	rs768554986
LitVar	rs768554986
Map	rs768554986
PheGenI	rs768554986
Biobank	rs768554986
1000 genomes	rs768554986
hgdp	rs768554986
ensembl	rs768554986
geneview	rs768554986
scholar	rs768554986
google	rs768554986
pharmgkb	rs768554986
gwascentral	rs768554986
openSNP	rs768554986
23andMe	rs768554986
SNPshot	rs768554986
SNPdbe	rs768554986
MSV3d	rs768554986
GWAS Ctlg	rs768554986

Max Magnitude

0

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,