rs730880276

Orientation

plus

Stabilized

plus

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

Make rs730880276(G;T)

Make rs730880276(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

147485934

Gene

CNTNAP2

is a	snp
is	mentioned by
dbSNP	rs730880276
dbSNP (classic)	rs730880276
ClinGen	rs730880276
ebi	rs730880276
HLI	rs730880276
Exac	rs730880276
Gnomad	rs730880276
Varsome	rs730880276
LitVar	rs730880276
Map	rs730880276
PheGenI	rs730880276
Biobank	rs730880276
1000 genomes	rs730880276
hgdp	rs730880276
ensembl	rs730880276
geneview	rs730880276
scholar	rs730880276
google	rs730880276
pharmgkb	rs730880276
gwascentral	rs730880276
openSNP	rs730880276
23andMe	rs730880276
SNPshot	rs730880276
SNPdbe	rs730880276
MSV3d	rs730880276
GWAS Ctlg	rs730880276

Max Magnitude

0

ClinVar
Risk	rs730880276(T;T)
Alt	rs730880276(T;T)
Reference	Rs730880276(G;G)
Significance	Pathogenic
Disease	Pitt-Hopkins-like syndrome 1 not provided
Variation	info
Gene	CNTNAP2
CLNDBN	Pitt-Hopkins-like syndrome 1 not provided
Reversed	0
HGVS	NC_000007.13:g.147183026G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005830.4, RCV000187170.1,