rs121908434

Orientation

minus

Stabilized

minus

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

Make rs121908434(C;G)

Make rs121908434(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

115414593

Gene

TRPS1

is a	snp
is	mentioned by
dbSNP	rs121908434
dbSNP (classic)	rs121908434
ClinGen	rs121908434
ebi	rs121908434
HLI	rs121908434
Exac	rs121908434
Gnomad	rs121908434
Varsome	rs121908434
LitVar	rs121908434
Map	rs121908434
PheGenI	rs121908434
Biobank	rs121908434
1000 genomes	rs121908434
hgdp	rs121908434
ensembl	rs121908434
geneview	rs121908434
scholar	rs121908434
google	rs121908434
pharmgkb	rs121908434
gwascentral	rs121908434
openSNP	rs121908434
23andMe	rs121908434
SNPshot	rs121908434
SNPdbe	rs121908434
MSV3d	rs121908434
GWAS Ctlg	rs121908434

Max Magnitude

0

OMIM	604386
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908434(G;G)
Alt	rs121908434(G;G)
Reference	Rs121908434(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.116426821G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005918.2,