rs1057518972

Orientation

minus

Stabilized

minus

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

Make rs1057518972(A;A)

Make rs1057518972(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

115418359

Gene

TRPS1

is a	snp
is	mentioned by
dbSNP	rs1057518972
dbSNP (classic)	rs1057518972
ClinGen	rs1057518972
ebi	rs1057518972
HLI	rs1057518972
Exac	rs1057518972
Gnomad	rs1057518972
Varsome	rs1057518972
LitVar	rs1057518972
Map	rs1057518972
PheGenI	rs1057518972
Biobank	rs1057518972
1000 genomes	rs1057518972
hgdp	rs1057518972
ensembl	rs1057518972
geneview	rs1057518972
scholar	rs1057518972
google	rs1057518972
pharmgkb	rs1057518972
gwascentral	rs1057518972
openSNP	rs1057518972
23andMe	rs1057518972
SNPshot	rs1057518972
SNPdbe	rs1057518972
MSV3d	rs1057518972
GWAS Ctlg	rs1057518972

Max Magnitude

0

ClinVar
Risk	rs1057518972(A;A)
Alt	rs1057518972(A;A)
Reference	Rs1057518972(G;G)
Significance	Probable-Pathogenic
Disease	Alopecia areata Brachydactyly syndrome Pear-shaped nose Proportionate short stature
Variation	info
Gene	TRPS1
CLNDBN	Alopecia areata Brachydactyly syndrome Pear-shaped nose Proportionate short stature
Reversed	1
HGVS	NC_000008.10:g.116430587C>T
CLNSRC
CLNACC	RCV000415011.1,