rs28939070

Orientation

minus

Stabilized

minus

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

Make rs28939070(A;A)

Make rs28939070(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

115415014

Gene

TRPS1

is a	snp
is	mentioned by
dbSNP	rs28939070
dbSNP (classic)	rs28939070
ClinGen	rs28939070
ebi	rs28939070
HLI	rs28939070
Exac	rs28939070
Gnomad	rs28939070
Varsome	rs28939070
LitVar	rs28939070
Map	rs28939070
PheGenI	rs28939070
Biobank	rs28939070
1000 genomes	rs28939070
hgdp	rs28939070
ensembl	rs28939070
geneview	rs28939070
scholar	rs28939070
google	rs28939070
pharmgkb	rs28939070
gwascentral	rs28939070
openSNP	rs28939070
23andMe	rs28939070
SNPshot	rs28939070
SNPdbe	rs28939070
MSV3d	rs28939070
GWAS Ctlg	rs28939070

Max Magnitude

0

OMIM	604386
Desc	TRICHORHINOPHALANGEAL SYNDROME, TYPE I
Variant	0012
Related	also

ClinVar
Risk	rs28939070(A;A)
Alt	rs28939070(A;A)
Reference	Rs28939070(G;G)
Significance	Pathogenic
Disease	Trichorhinophalangeal dysplasia type I
Variation	info
Gene	TRPS1
CLNDBN	Trichorhinophalangeal dysplasia type I
Reversed	1
HGVS	NC_000008.10:g.116427242C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005922.2,