rs199422217

Orientation

plus

Stabilized

plus

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

Make rs199422217(A;A)

Make rs199422217(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

157468728

Gene

NIPAL4

is a	snp
is	mentioned by
dbSNP	rs199422217
dbSNP (classic)	rs199422217
ClinGen	rs199422217
ebi	rs199422217
HLI	rs199422217
Exac	rs199422217
Gnomad	rs199422217
Varsome	rs199422217
LitVar	rs199422217
Map	rs199422217
PheGenI	rs199422217
Biobank	rs199422217
1000 genomes	rs199422217
hgdp	rs199422217
ensembl	rs199422217
geneview	rs199422217
scholar	rs199422217
google	rs199422217
pharmgkb	rs199422217
gwascentral	rs199422217
openSNP	rs199422217
23andMe	rs199422217
SNPshot	rs199422217
SNPdbe	rs199422217
MSV3d	rs199422217
GWAS Ctlg	rs199422217

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs199422217(A;A) rs199422217(G;G)
Alt	rs199422217(A;A) rs199422217(G;G)
Reference	Rs199422217(C;C)
Significance	Pathogenic
Disease	Autosomal recessive congenital ichthyosis 6 not provided Congenital ichthyosiform erythroderma
Variation	info
Gene	ADAM19 NIPAL4
CLNDBN	Autosomal recessive congenital ichthyosis 6 not provided Congenital ichthyosiform erythroderma
Reversed	0
HGVS	NC_000005.9:g.156895736C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001801.3, RCV000254897.1, RCV000264110.1,