rs387906285

Orientation

minus

Stabilized

minus

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

Make rs387906285(-;-)

Make rs387906285(-;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

214978432

Gene

ABCA12

is a	snp
is	mentioned by
dbSNP	rs387906285
dbSNP (classic)	rs387906285
ClinGen	rs387906285
ebi	rs387906285
HLI	rs387906285
Exac	rs387906285
Gnomad	rs387906285
Varsome	rs387906285
LitVar	rs387906285
Map	rs387906285
PheGenI	rs387906285
Biobank	rs387906285
1000 genomes	rs387906285
hgdp	rs387906285
ensembl	rs387906285
geneview	rs387906285
scholar	rs387906285
google	rs387906285
pharmgkb	rs387906285
gwascentral	rs387906285
openSNP	rs387906285
23andMe	rs387906285
SNPshot	rs387906285
SNPdbe	rs387906285
MSV3d	rs387906285
GWAS Ctlg	rs387906285

Max Magnitude

0

ClinVar
Risk	rs387906285(-;-)
Alt	rs387906285(-;-)
Reference	Rs387906285(A;A)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 4B
Variation	info
Gene	ABCA12
CLNDBN	Autosomal recessive congenital ichthyosis 4B
Reversed	1
HGVS	NC_000002.11:g.215843156delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002994.3,