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rs199422216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422216(C;T)
Make rs199422216(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position157463303
GeneNIPAL4
is asnp
is mentioned by
dbSNPrs199422216
ebirs199422216
HLIrs199422216
Exacrs199422216
Varsomers199422216
Maprs199422216
PheGenIrs199422216
hapmaprs199422216
1000 genomesrs199422216
hgdprs199422216
ensemblrs199422216
gopubmedrs199422216
geneviewrs199422216
scholarrs199422216
googlers199422216
pharmgkbrs199422216
gwascentralrs199422216
openSNPrs199422216
23andMers199422216
23andMe allrs199422216
SNP Nexus

SNPshotrs199422216
SNPdbers199422216
MSV3drs199422216
GWAS Ctlgrs199422216
Max Magnitude0
ClinVar
Risk rs199422216(A,T;A,T)
Alt rs199422216(A,T;A,T)
Reference rs199422216(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 6
Variation info
Gene ADAM19 NIPAL4
CLNDBN Autosomal recessive congenital ichthyosis 6
Reversed 0
HGVS NC_000005.9:g.156890311C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001799.2,