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

rs121908315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908315(A;A)
Make rs121908315(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position3653454
GenePIP5K1C
is asnp
is mentioned by
dbSNPrs121908315
ebirs121908315
HLIrs121908315
Exacrs121908315
Varsomers121908315
Maprs121908315
PheGenIrs121908315
hapmaprs121908315
1000 genomesrs121908315
hgdprs121908315
ensemblrs121908315
gopubmedrs121908315
geneviewrs121908315
scholarrs121908315
googlers121908315
pharmgkbrs121908315
gwascentralrs121908315
openSNPrs121908315
23andMers121908315
23andMe allrs121908315
SNP Nexus

SNPshotrs121908315
SNPdbers121908315
MSV3drs121908315
GWAS Ctlgrs121908315
Max Magnitude0
OMIM606102
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908315(A;A)
Alt rs121908315(A;A)
Reference rs121908315(G;G)
Significance Pathogenic
Disease Lethal congenital contractural syndrome 3
Variation info
Gene PIP5K1C
CLNDBN Lethal congenital contractural syndrome 3
Reversed 1
HGVS NC_000019.9:g.3653452C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004878.2,