rs6504649

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	0	common in complete genomics

Make rs6504649(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50360095

Gene

XYLT2

is a	snp
is	mentioned by
dbSNP	rs6504649
dbSNP (classic)	rs6504649
ClinGen	rs6504649
ebi	rs6504649
HLI	rs6504649
Exac	rs6504649
Gnomad	rs6504649
Varsome	rs6504649
LitVar	rs6504649
Map	rs6504649
PheGenI	rs6504649
Biobank	rs6504649
1000 genomes	rs6504649
hgdp	rs6504649
ensembl	rs6504649
geneview	rs6504649
scholar	rs6504649
google	rs6504649
pharmgkb	rs6504649
gwascentral	rs6504649
openSNP	rs6504649
23andMe	rs6504649
SNPshot	rs6504649
SNPdbe	rs6504649
MSV3d	rs6504649
GWAS Ctlg	rs6504649

GMAF

0.2718

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

OMIM	608125
Desc
Variant	0001
Related	also

ClinVar
Risk	rs6504649(G;G) rs6504649(T;T)
Alt	rs6504649(G;G) rs6504649(T;T)
Reference	Rs6504649(C;C)
Significance	Other
Disease	Pseudoxanthoma elasticum
Variation	info
Gene	XYLT2
CLNDBN	Pseudoxanthoma elasticum, modifier of severity of
Reversed	0
HGVS	NC_000017.10:g.48437456C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002642.3,