rs1057518791

Orientation

minus

Stabilized

minus

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

Make rs1057518791(A;A)

Make rs1057518791(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

115604739

Gene

TRPS1

is a	snp
is	mentioned by
dbSNP	rs1057518791
dbSNP (classic)	rs1057518791
ClinGen	rs1057518791
ebi	rs1057518791
HLI	rs1057518791
Exac	rs1057518791
Gnomad	rs1057518791
Varsome	rs1057518791
LitVar	rs1057518791
Map	rs1057518791
PheGenI	rs1057518791
Biobank	rs1057518791
1000 genomes	rs1057518791
hgdp	rs1057518791
ensembl	rs1057518791
geneview	rs1057518791
scholar	rs1057518791
google	rs1057518791
pharmgkb	rs1057518791
gwascentral	rs1057518791
openSNP	rs1057518791
23andMe	rs1057518791
SNPshot	rs1057518791
SNPdbe	rs1057518791
MSV3d	rs1057518791
GWAS Ctlg	rs1057518791

Max Magnitude

0

ClinVar
Risk	rs1057518791(A;A)
Alt	rs1057518791(A;A)
Reference	Rs1057518791(G;G)
Significance	Probable-Pathogenic
Disease	Craniosynostosis High pitched voice Hyperextensible skin Mitral valve prolapse Short stature Sparse and thin eyebrow Sparse hair
Variation	info
Gene	TRPS1
CLNDBN	Craniosynostosis High pitched voice Hyperextensible skin Mitral valve prolapse Short stature Sparse and thin eyebrow Sparse hair
Reversed	1
HGVS	NC_000008.10:g.116616966C>T
CLNSRC
CLNACC	RCV000414836.1,