rs1057519339

Orientation

plus

Stabilized

plus

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

Make rs1057519339(-;-)

Make rs1057519339(-;CA)

Make rs1057519339(CA;CA)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

15055216

Gene

CASP14

is a	snp
is	mentioned by
dbSNP	rs1057519339
dbSNP (classic)	rs1057519339
ClinGen	rs1057519339
ebi	rs1057519339
HLI	rs1057519339
Exac	rs1057519339
Gnomad	rs1057519339
Varsome	rs1057519339
LitVar	rs1057519339
Map	rs1057519339
PheGenI	rs1057519339
Biobank	rs1057519339
1000 genomes	rs1057519339
hgdp	rs1057519339
ensembl	rs1057519339
geneview	rs1057519339
scholar	rs1057519339
google	rs1057519339
pharmgkb	rs1057519339
gwascentral	rs1057519339
openSNP	rs1057519339
23andMe	rs1057519339
SNPshot	rs1057519339
SNPdbe	rs1057519339
MSV3d	rs1057519339
GWAS Ctlg	rs1057519339

Max Magnitude

0

ClinVar
Risk	rs1057519339(-;-)
Alt	rs1057519339(-;-)
Reference	Rs1057519339(AC;AC)
Significance	Pathogenic
Disease	Ichthyosis
Variation	info
Gene	CASP14
CLNDBN	Ichthyosis, congenital, autosomal recessive 12
Reversed	0
HGVS	NC_000019.9:g.15166027_15166028delCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416366.1,