rs139539448

Orientation

plus

Stabilized

plus

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

Make rs139539448(C;C)

Make rs139539448(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

92005874

Gene

TRIP11

is a	snp
is	mentioned by
dbSNP	rs139539448
dbSNP (classic)	rs139539448
ClinGen	rs139539448
ebi	rs139539448
HLI	rs139539448
Exac	rs139539448
Gnomad	rs139539448
Varsome	rs139539448
LitVar	rs139539448
Map	rs139539448
PheGenI	rs139539448
Biobank	rs139539448
1000 genomes	rs139539448
hgdp	rs139539448
ensembl	rs139539448
geneview	rs139539448
scholar	rs139539448
google	rs139539448
pharmgkb	rs139539448
gwascentral	rs139539448
openSNP	rs139539448
23andMe	rs139539448
SNPshot	rs139539448
SNPdbe	rs139539448
MSV3d	rs139539448
GWAS Ctlg	rs139539448

GMAF

0.001837

Max Magnitude

0

ClinVar
Risk	rs139539448(C;C)
Alt	rs139539448(C;C)
Reference	Rs139539448(T;T)
Significance	Pathogenic
Disease	Achondrogenesis not specified
Variation	info
Gene	TRIP11
CLNDBN	Achondrogenesis, type IA not specified
Reversed	0
HGVS	NC_000014.8:g.92472218T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005846.4, RCV000405416.1,