rs398123038

Orientation

plus

Stabilized

plus

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

Make rs398123038(G;T)

Make rs398123038(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

32216609

Gene

POFUT1

is a	snp
is	mentioned by
dbSNP	rs398123038
dbSNP (classic)	rs398123038
ClinGen	rs398123038
ebi	rs398123038
HLI	rs398123038
Exac	rs398123038
Gnomad	rs398123038
Varsome	rs398123038
LitVar	rs398123038
Map	rs398123038
PheGenI	rs398123038
Biobank	rs398123038
1000 genomes	rs398123038
hgdp	rs398123038
ensembl	rs398123038
geneview	rs398123038
scholar	rs398123038
google	rs398123038
pharmgkb	rs398123038
gwascentral	rs398123038
openSNP	rs398123038
23andMe	rs398123038
SNPshot	rs398123038
SNPdbe	rs398123038
MSV3d	rs398123038
GWAS Ctlg	rs398123038

Max Magnitude

0

ClinVar
Risk	rs398123038(T;T)
Alt	rs398123038(T;T)
Reference	Rs398123038(G;G)
Significance	Pathogenic
Disease	Dowling-Degos disease 2
Variation	info
Gene	POFUT1
CLNDBN	Dowling-Degos disease 2
Reversed	0
HGVS	NC_000020.10:g.30804412G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000050207.3,