rs398122386

Orientation

plus

Stabilized

plus

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

Make rs398122386(-;-)

Make rs398122386(-;CTC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

50408821

Gene

POLD1

is a	snp
is	mentioned by
dbSNP	rs398122386
dbSNP (classic)	rs398122386
ClinGen	rs398122386
ebi	rs398122386
HLI	rs398122386
Exac	rs398122386
Gnomad	rs398122386
Varsome	rs398122386
LitVar	rs398122386
Map	rs398122386
PheGenI	rs398122386
Biobank	rs398122386
1000 genomes	rs398122386
hgdp	rs398122386
ensembl	rs398122386
geneview	rs398122386
scholar	rs398122386
google	rs398122386
pharmgkb	rs398122386
gwascentral	rs398122386
openSNP	rs398122386
23andMe	rs398122386
SNPshot	rs398122386
SNPdbe	rs398122386
MSV3d	rs398122386
GWAS Ctlg	rs398122386

Max Magnitude

0

ClinVar
Risk	rs398122386(-;-)
Alt	rs398122386(-;-)
Reference	Rs398122386(CTC;CTC)
Significance	Pathogenic
Disease	Mandibular hypoplasia not provided
Variation	info
Gene	POLD1
CLNDBN	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome not provided
Reversed	0
HGVS	NC_000019.9:g.50912078_50912080delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054542.26, RCV000484962.1,