Have questions? Visit https://www.reddit.com/r/SNPedia

rs113994203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994203(A;A)
Make rs113994203(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position2676607
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs113994203
ebirs113994203
HLIrs113994203
Exacrs113994203
Varsomers113994203
Maprs113994203
PheGenIrs113994203
hapmaprs113994203
1000 genomesrs113994203
hgdprs113994203
ensemblrs113994203
gopubmedrs113994203
geneviewrs113994203
scholarrs113994203
googlers113994203
pharmgkbrs113994203
gwascentralrs113994203
openSNPrs113994203
23andMers113994203
23andMe allrs113994203
SNP Nexus

SNPshotrs113994203
SNPdbers113994203
MSV3drs113994203
GWAS Ctlgrs113994203
Max Magnitude0
ClinVar
Risk rs113994203(A;A)
Alt rs113994203(A;A)
Reference rs113994203(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579901G>A
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020297.3,


OMIM607432
Desc
Variant
Relatedalso