rs121908432

Orientation

minus

Stabilized

minus

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

Make rs121908432(C;T)

Make rs121908432(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

115587144

Gene

TRPS1

is a	snp
is	mentioned by
dbSNP	rs121908432
dbSNP (classic)	rs121908432
ClinGen	rs121908432
ebi	rs121908432
HLI	rs121908432
Exac	rs121908432
Gnomad	rs121908432
Varsome	rs121908432
LitVar	rs121908432
Map	rs121908432
PheGenI	rs121908432
Biobank	rs121908432
1000 genomes	rs121908432
hgdp	rs121908432
ensembl	rs121908432
geneview	rs121908432
scholar	rs121908432
google	rs121908432
pharmgkb	rs121908432
gwascentral	rs121908432
openSNP	rs121908432
23andMe	rs121908432
SNPshot	rs121908432
SNPdbe	rs121908432
MSV3d	rs121908432
GWAS Ctlg	rs121908432

Max Magnitude

0

OMIM	604386
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908432(T;T)
Alt	rs121908432(T;T)
Reference	Rs121908432(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.116599371G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005915.2,