rs387907060

Orientation

minus

Stabilized

minus

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

Make rs387907060(C;C)

Make rs387907060(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165911404

Gene

TTC21B

is a	snp
is	mentioned by
dbSNP	rs387907060
dbSNP (classic)	rs387907060
ClinGen	rs387907060
ebi	rs387907060
HLI	rs387907060
Exac	rs387907060
Gnomad	rs387907060
Varsome	rs387907060
LitVar	rs387907060
Map	rs387907060
PheGenI	rs387907060
Biobank	rs387907060
1000 genomes	rs387907060
hgdp	rs387907060
ensembl	rs387907060
geneview	rs387907060
scholar	rs387907060
google	rs387907060
pharmgkb	rs387907060
gwascentral	rs387907060
openSNP	rs387907060
23andMe	rs387907060
SNPshot	rs387907060
SNPdbe	rs387907060
MSV3d	rs387907060
GWAS Ctlg	rs387907060

Max Magnitude

0

ClinVar
Risk	rs387907060(C;C)
Alt	rs387907060(C;C)
Reference	Rs387907060(T;T)
Significance	Pathogenic
Disease	Asphyxiating thoracic dystrophy 4
Variation	info
Gene	TTC21B
CLNDBN	Asphyxiating thoracic dystrophy 4
Reversed	1
HGVS	NC_000002.11:g.166767914A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023928.4,