rs146506752

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common on affy axiom data

Make rs146506752(A;A)

Make rs146506752(A;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

115587260

Gene

TRPS1

is a	snp
is	mentioned by
dbSNP	rs146506752
dbSNP (classic)	rs146506752
ClinGen	rs146506752
ebi	rs146506752
HLI	rs146506752
Exac	rs146506752
Gnomad	rs146506752
Varsome	rs146506752
LitVar	rs146506752
Map	rs146506752
PheGenI	rs146506752
Biobank	rs146506752
1000 genomes	rs146506752
hgdp	rs146506752
ensembl	rs146506752
geneview	rs146506752
scholar	rs146506752
google	rs146506752
pharmgkb	rs146506752
gwascentral	rs146506752
openSNP	rs146506752
23andMe	rs146506752
SNPshot	rs146506752
SNPdbe	rs146506752
MSV3d	rs146506752
GWAS Ctlg	rs146506752

GMAF

0.001837

Max Magnitude

0

[PMID 22553388] Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis

ClinVar
Risk	rs146506752(A;A) rs146506752(T;T)
Alt	rs146506752(A;A) rs146506752(T;T)
Reference	Rs146506752(C;C)
Significance	Probable-non-pathogenic
Disease	Trichorhinophalangeal Syndrome
Variation	info
Gene	TRPS1
CLNDBN	Trichorhinophalangeal Syndrome
Reversed	0
HGVS	NC_000008.10:g.116599487C>A
CLNSRC
CLNACC	RCV000314140.1,