rs199422216
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199422216(C;T) |
Make rs199422216(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 157463303 |
Gene | NIPAL4 |
is a | snp |
is | mentioned by |
dbSNP | rs199422216 |
dbSNP (classic) | rs199422216 |
ClinGen | rs199422216 |
ebi | rs199422216 |
HLI | rs199422216 |
Exac | rs199422216 |
Gnomad | rs199422216 |
Varsome | rs199422216 |
LitVar | rs199422216 |
Map | rs199422216 |
PheGenI | rs199422216 |
Biobank | rs199422216 |
1000 genomes | rs199422216 |
hgdp | rs199422216 |
ensembl | rs199422216 |
geneview | rs199422216 |
scholar | rs199422216 |
rs199422216 | |
pharmgkb | rs199422216 |
gwascentral | rs199422216 |
openSNP | rs199422216 |
23andMe | rs199422216 |
SNPshot | rs199422216 |
SNPdbe | rs199422216 |
MSV3d | rs199422216 |
GWAS Ctlg | rs199422216 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422216(A;A) rs199422216(T;T) |
Alt | rs199422216(A;A) rs199422216(T;T) |
Reference | Rs199422216(C;C) |
Significance | Pathogenic |
Disease | Autosomal recessive congenital ichthyosis 6 not provided |
Variation | info |
Gene | ADAM19 NIPAL4 |
CLNDBN | Autosomal recessive congenital ichthyosis 6 not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.156890311C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001799.2, RCV000436418.1, |