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rs113994202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994202(C;C)
Make rs113994202(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position2672645
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs113994202
ebirs113994202
HLIrs113994202
Exacrs113994202
Varsomers113994202
Maprs113994202
PheGenIrs113994202
hapmaprs113994202
1000 genomesrs113994202
hgdprs113994202
ensemblrs113994202
gopubmedrs113994202
geneviewrs113994202
scholarrs113994202
googlers113994202
pharmgkbrs113994202
gwascentralrs113994202
openSNPrs113994202
23andMers113994202
23andMe allrs113994202
SNP Nexus

SNPshotrs113994202
SNPdbers113994202
MSV3drs113994202
GWAS Ctlgrs113994202
Max Magnitude0
ClinVar
Risk rs113994202(C;C)
Alt rs113994202(C;C)
Reference rs113994202(T;T)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2575939T>C
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020304.3,


OMIM607432
Desc
Variant
Relatedalso