rs387906473

Orientation

minus

Stabilized

minus

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

Make rs387906473(-;-)

Make rs387906473(-;AT)

Reference

GRCh38 38.1/141

Chromosome

X

Position

55009244

Gene

ALAS2

is a	snp
is	mentioned by
dbSNP	rs387906473
dbSNP (classic)	rs387906473
ClinGen	rs387906473
ebi	rs387906473
HLI	rs387906473
Exac	rs387906473
Gnomad	rs387906473
Varsome	rs387906473
LitVar	rs387906473
Map	rs387906473
PheGenI	rs387906473
Biobank	rs387906473
1000 genomes	rs387906473
hgdp	rs387906473
ensembl	rs387906473
geneview	rs387906473
scholar	rs387906473
google	rs387906473
pharmgkb	rs387906473
gwascentral	rs387906473
openSNP	rs387906473
23andMe	rs387906473
SNPshot	rs387906473
SNPdbe	rs387906473
MSV3d	rs387906473
GWAS Ctlg	rs387906473

Max Magnitude

0

ClinVar
Risk	rs387906473(-;-)
Alt	rs387906473(-;-)
Reference	Rs387906473(AT;AT)
Significance	Pathogenic
Disease	Protoporphyria
Variation	info
Gene	ALAS2
CLNDBN	Protoporphyria, erythropoietic, X-linked
Reversed	1
HGVS	NC_000023.10:g.55035677_55035678delAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011229.7,