rs137853289

Orientation

minus

Stabilized

minus

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

Make rs137853289(C;T)

Make rs137853289(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

214953891

Gene	ABCA12, LOC101928103

is a	snp
is	mentioned by
dbSNP	rs137853289
dbSNP (classic)	rs137853289
ClinGen	rs137853289
ebi	rs137853289
HLI	rs137853289
Exac	rs137853289
Gnomad	rs137853289
Varsome	rs137853289
LitVar	rs137853289
Map	rs137853289
PheGenI	rs137853289
Biobank	rs137853289
1000 genomes	rs137853289
hgdp	rs137853289
ensembl	rs137853289
geneview	rs137853289
scholar	rs137853289
google	rs137853289
pharmgkb	rs137853289
gwascentral	rs137853289
openSNP	rs137853289
23andMe	rs137853289
SNPshot	rs137853289
SNPdbe	rs137853289
MSV3d	rs137853289
GWAS Ctlg	rs137853289

Max Magnitude

0

OMIM	607800
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137853289(T;T)
Alt	rs137853289(T;T)
Reference	Rs137853289(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.215818615G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002996.3, RCV000413290.1,