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rs606231171

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231171(-;-)
Make rs606231171(-;AGCCTGCGC)
Make rs606231171(AGCCTGCGC;AGCCTGCGC)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position1791826
GeneIGFALS
is asnp
is mentioned by
dbSNPrs606231171
ebirs606231171
HLIrs606231171
Exacrs606231171
Varsomers606231171
Maprs606231171
PheGenIrs606231171
hapmaprs606231171
1000 genomesrs606231171
hgdprs606231171
ensemblrs606231171
gopubmedrs606231171
geneviewrs606231171
scholarrs606231171
googlers606231171
pharmgkbrs606231171
gwascentralrs606231171
openSNPrs606231171
23andMers606231171
23andMe allrs606231171
SNP Nexus

SNPshotrs606231171
SNPdbers606231171
MSV3drs606231171
GWAS Ctlgrs606231171
Max Magnitude0
ClinVar
Risk rs606231171(AGCCTGCGC;AGCCTGCGC)
Alt rs606231171(AGCCTGCGC;AGCCTGCGC)
Reference rs606231171(;)
Significance Pathogenic
Disease Acid-labile subunit deficiency
Variation info
Gene IGFALS
CLNDBN Acid-labile subunit deficiency
Reversed 1
HGVS NC_000016.9:g.1841828_1841836dupGCGCAGGCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008602.4,