rs267606667

Orientation

plus

Stabilized

plus

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

Make rs267606667(A;A)

Make rs267606667(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102958296

Gene

ASCL1

is a	snp
is	mentioned by
dbSNP	rs267606667
dbSNP (classic)	rs267606667
ClinGen	rs267606667
ebi	rs267606667
HLI	rs267606667
Exac	rs267606667
Gnomad	rs267606667
Varsome	rs267606667
LitVar	rs267606667
Map	rs267606667
PheGenI	rs267606667
Biobank	rs267606667
1000 genomes	rs267606667
hgdp	rs267606667
ensembl	rs267606667
geneview	rs267606667
scholar	rs267606667
google	rs267606667
pharmgkb	rs267606667
gwascentral	rs267606667
openSNP	rs267606667
23andMe	rs267606667
SNPshot	rs267606667
SNPdbe	rs267606667
MSV3d	rs267606667
GWAS Ctlg	rs267606667

Max Magnitude

0

ClinVar
Risk	rs267606667(A;A)
Alt	rs267606667(A;A)
Reference	Rs267606667(C;C)
Significance	Pathogenic
Disease	Congenital central hypoventilation
Variation	info
Gene	ASCL1
CLNDBN	Congenital central hypoventilation
Reversed	0
HGVS	NC_000012.11:g.103352074C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019998.26,