rs387906472

Orientation

minus

Stabilized

minus

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

Make rs387906472(-;-)

Make rs387906472(-;AGTG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

55009235

Gene

ALAS2

is a	snp
is	mentioned by
dbSNP	rs387906472
dbSNP (classic)	rs387906472
ClinGen	rs387906472
ebi	rs387906472
HLI	rs387906472
Exac	rs387906472
Gnomad	rs387906472
Varsome	rs387906472
LitVar	rs387906472
Map	rs387906472
PheGenI	rs387906472
Biobank	rs387906472
1000 genomes	rs387906472
hgdp	rs387906472
ensembl	rs387906472
geneview	rs387906472
scholar	rs387906472
google	rs387906472
pharmgkb	rs387906472
gwascentral	rs387906472
openSNP	rs387906472
23andMe	rs387906472
SNPshot	rs387906472
SNPdbe	rs387906472
MSV3d	rs387906472
GWAS Ctlg	rs387906472

Max Magnitude

0

ClinVar
Risk	rs387906472(-;-)
Alt	rs387906472(-;-)
Reference	Rs387906472(AGTG;AGTG)
Significance	Pathogenic
Disease	Protoporphyria
Variation	info
Gene	ALAS2
CLNDBN	Protoporphyria, erythropoietic, X-linked
Reversed	1
HGVS	NC_000023.10:g.55035668_55035671delCACT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011228.6,