rs104894058

Orientation

minus

Stabilized

minus

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

Make rs104894058(G;T)

Make rs104894058(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

19116781

Gene

TWIST1

is a	snp
is	mentioned by
dbSNP	rs104894058
dbSNP (classic)	rs104894058
ClinGen	rs104894058
ebi	rs104894058
HLI	rs104894058
Exac	rs104894058
Gnomad	rs104894058
Varsome	rs104894058
LitVar	rs104894058
Map	rs104894058
PheGenI	rs104894058
Biobank	rs104894058
1000 genomes	rs104894058
hgdp	rs104894058
ensembl	rs104894058
geneview	rs104894058
scholar	rs104894058
google	rs104894058
pharmgkb	rs104894058
gwascentral	rs104894058
openSNP	rs104894058
23andMe	rs104894058
SNPshot	rs104894058
SNPdbe	rs104894058
MSV3d	rs104894058
GWAS Ctlg	rs104894058

Max Magnitude

0

OMIM	601622
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894058(A;A) rs104894058(C;C) rs104894058(T;T)
Alt	rs104894058(A;A) rs104894058(C;C) rs104894058(T;T)
Reference	Rs104894058(G;G)
Significance	Pathogenic
Disease	Saethre-Chotzen syndrome
Variation	info
Gene	TWIST1
CLNDBN	Saethre-Chotzen syndrome
Reversed	1
HGVS	NC_000007.13:g.19156404C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008444.4,