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rs199422217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422217(A;A)
Make rs199422217(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position157468728
GeneNIPAL4
is asnp
is mentioned by
dbSNPrs199422217
ebirs199422217
HLIrs199422217
Exacrs199422217
Varsomers199422217
Maprs199422217
PheGenIrs199422217
hapmaprs199422217
1000 genomesrs199422217
hgdprs199422217
ensemblrs199422217
gopubmedrs199422217
geneviewrs199422217
scholarrs199422217
googlers199422217
pharmgkbrs199422217
gwascentralrs199422217
openSNPrs199422217
23andMers199422217
23andMe allrs199422217
SNP Nexus

SNPshotrs199422217
SNPdbers199422217
MSV3drs199422217
GWAS Ctlgrs199422217
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs199422217(A,G;A,G)
Alt rs199422217(A,G;A,G)
Reference rs199422217(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.156895736C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001801.2,