rs104894057

Orientation

minus

Stabilized

minus

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

Make rs104894057(A;C)

Make rs104894057(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

19116966

Gene

TWIST1

is a	snp
is	mentioned by
dbSNP	rs104894057
dbSNP (classic)	rs104894057
ClinGen	rs104894057
ebi	rs104894057
HLI	rs104894057
Exac	rs104894057
Gnomad	rs104894057
Varsome	rs104894057
LitVar	rs104894057
Map	rs104894057
PheGenI	rs104894057
Biobank	rs104894057
1000 genomes	rs104894057
hgdp	rs104894057
ensembl	rs104894057
geneview	rs104894057
scholar	rs104894057
google	rs104894057
pharmgkb	rs104894057
gwascentral	rs104894057
openSNP	rs104894057
23andMe	rs104894057
SNPshot	rs104894057
SNPdbe	rs104894057
MSV3d	rs104894057
GWAS Ctlg	rs104894057

Max Magnitude

0

OMIM	601622
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894057(C;C)
Alt	rs104894057(C;C)
Reference	Rs104894057(A;A)
Significance	Pathogenic
Disease	Saethre-Chotzen syndrome
Variation	info
Gene	TWIST1
CLNDBN	Saethre-Chotzen syndrome
Reversed	1
HGVS	NC_000007.13:g.19156589T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008438.4,