rs104894054

Orientation

minus

Stabilized

minus

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

Make rs104894054(C;G)

Make rs104894054(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

19117013

Gene

TWIST1

is a	snp
is	mentioned by
dbSNP	rs104894054
dbSNP (classic)	rs104894054
ClinGen	rs104894054
ebi	rs104894054
HLI	rs104894054
Exac	rs104894054
Gnomad	rs104894054
Varsome	rs104894054
LitVar	rs104894054
Map	rs104894054
PheGenI	rs104894054
Biobank	rs104894054
1000 genomes	rs104894054
hgdp	rs104894054
ensembl	rs104894054
geneview	rs104894054
scholar	rs104894054
google	rs104894054
pharmgkb	rs104894054
gwascentral	rs104894054
openSNP	rs104894054
23andMe	rs104894054
SNPshot	rs104894054
SNPdbe	rs104894054
MSV3d	rs104894054
GWAS Ctlg	rs104894054

Max Magnitude

0

OMIM	601622
Desc
Variant	0003
Related	also

OMIM	601622
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894054(A;A) rs104894054(G;G)
Alt	rs104894054(A;A) rs104894054(G;G)
Reference	Rs104894054(C;C)
Significance	Pathogenic
Disease	Saethre-Chotzen syndrome
Variation	info
Gene	TWIST1
CLNDBN	Saethre-Chotzen syndrome
Reversed	1
HGVS	NC_000007.13:g.19156636G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008439.4,