rs104894065

Orientation

minus

Stabilized

minus

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

Make rs104894065(C;T)

Make rs104894065(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

19117111

Gene

TWIST1

is a	snp
is	mentioned by
dbSNP	rs104894065
dbSNP (classic)	rs104894065
ClinGen	rs104894065
ebi	rs104894065
HLI	rs104894065
Exac	rs104894065
Gnomad	rs104894065
Varsome	rs104894065
LitVar	rs104894065
Map	rs104894065
PheGenI	rs104894065
Biobank	rs104894065
1000 genomes	rs104894065
hgdp	rs104894065
ensembl	rs104894065
geneview	rs104894065
scholar	rs104894065
google	rs104894065
pharmgkb	rs104894065
gwascentral	rs104894065
openSNP	rs104894065
23andMe	rs104894065
SNPshot	rs104894065
SNPdbe	rs104894065
MSV3d	rs104894065
GWAS Ctlg	rs104894065

Max Magnitude

0

OMIM	601622
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894065(T;T)
Alt	rs104894065(T;T)
Reference	Rs104894065(C;C)
Significance	Pathogenic
Disease	Robinow Sorauf syndrome
Variation	info
Gene	TWIST1
CLNDBN	Robinow Sorauf syndrome
Reversed	1
HGVS	NC_000007.13:g.19156734G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008448.3,