rs387906284

Orientation

minus

Stabilized

minus

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

Make rs387906284(-;-)

Make rs387906284(-;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

214945021

Gene	ABCA12, LOC101928103

is a	snp
is	mentioned by
dbSNP	rs387906284
dbSNP (classic)	rs387906284
ClinGen	rs387906284
ebi	rs387906284
HLI	rs387906284
Exac	rs387906284
Gnomad	rs387906284
Varsome	rs387906284
LitVar	rs387906284
Map	rs387906284
PheGenI	rs387906284
Biobank	rs387906284
1000 genomes	rs387906284
hgdp	rs387906284
ensembl	rs387906284
geneview	rs387906284
scholar	rs387906284
google	rs387906284
pharmgkb	rs387906284
gwascentral	rs387906284
openSNP	rs387906284
23andMe	rs387906284
SNPshot	rs387906284
SNPdbe	rs387906284
MSV3d	rs387906284
GWAS Ctlg	rs387906284

Max Magnitude

0

ClinVar
Risk	rs387906284(-;-)
Alt	rs387906284(-;-)
Reference	Rs387906284(C;C)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 4B not provided
Variation	info
Gene	LOC101928103 ABCA12
CLNDBN	Autosomal recessive congenital ichthyosis 4B not provided
Reversed	1
HGVS	NC_000002.11:g.215809745delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002993.2, RCV000487023.1,