rs397518448

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AG;AG)	0	common/normal
(GA;GA)	0	common in clinvar

Make rs397518448(-;-)

Make rs397518448(-;AG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

165768765

Gene	LOC100147773, TMCO1

is a	snp
is	mentioned by
dbSNP	rs397518448
dbSNP (classic)	rs397518448
ClinGen	rs397518448
ebi	rs397518448
HLI	rs397518448
Exac	rs397518448
Gnomad	rs397518448
Varsome	rs397518448
LitVar	rs397518448
Map	rs397518448
PheGenI	rs397518448
Biobank	rs397518448
1000 genomes	rs397518448
hgdp	rs397518448
ensembl	rs397518448
geneview	rs397518448
scholar	rs397518448
google	rs397518448
pharmgkb	rs397518448
gwascentral	rs397518448
openSNP	rs397518448
23andMe	rs397518448
SNPshot	rs397518448
SNPdbe	rs397518448
MSV3d	rs397518448
GWAS Ctlg	rs397518448

Max Magnitude

0

ClinVar
Risk	rs397518448(-;-)
Alt	rs397518448(-;-)
Reference	Rs397518448(GA;GA)
Significance	Pathogenic
Disease	Craniofacial dysmorphism
Variation	info
Gene	LOC100147773 RP11-466F5.8 TMCO1
CLNDBN	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Reversed	1
HGVS	NC_000001.10:g.165738002_165738003delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024096.4,