rs28939069

Orientation

minus

Stabilized

minus

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

Make rs28939069(C;T)

Make rs28939069(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

115415015

Gene

TRPS1

is a	snp
is	mentioned by
dbSNP	rs28939069
dbSNP (classic)	rs28939069
ClinGen	rs28939069
ebi	rs28939069
HLI	rs28939069
Exac	rs28939069
Gnomad	rs28939069
Varsome	rs28939069
LitVar	rs28939069
Map	rs28939069
PheGenI	rs28939069
Biobank	rs28939069
1000 genomes	rs28939069
hgdp	rs28939069
ensembl	rs28939069
geneview	rs28939069
scholar	rs28939069
google	rs28939069
pharmgkb	rs28939069
gwascentral	rs28939069
openSNP	rs28939069
23andMe	rs28939069
SNPshot	rs28939069
SNPdbe	rs28939069
MSV3d	rs28939069
GWAS Ctlg	rs28939069

Max Magnitude

0

OMIM	604386
Desc	TRICHORHINOPHALANGEAL SYNDROME, TYPE I
Variant	0011
Related	also

ClinVar
Risk	rs28939069(T;T)
Alt	rs28939069(T;T)
Reference	Rs28939069(C;C)
Significance	Pathogenic
Disease	Trichorhinophalangeal dysplasia type I
Variation	info
Gene	TRPS1
CLNDBN	Trichorhinophalangeal dysplasia type I
Reversed	1
HGVS	NC_000008.10:g.116427243G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005921.2,