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rs201948500

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201948500(C;G)
Make rs201948500(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position43794485
GeneDYNC2LI1
is asnp
is mentioned by
dbSNPrs201948500
ebirs201948500
HLIrs201948500
Exacrs201948500
Varsomers201948500
Maprs201948500
PheGenIrs201948500
hapmaprs201948500
1000 genomesrs201948500
hgdprs201948500
ensemblrs201948500
gopubmedrs201948500
geneviewrs201948500
scholarrs201948500
googlers201948500
pharmgkbrs201948500
gwascentralrs201948500
openSNPrs201948500
23andMers201948500
23andMe allrs201948500
SNP Nexus

SNPshotrs201948500
SNPdbers201948500
MSV3drs201948500
GWAS Ctlgrs201948500
Max Magnitude0
ClinVar
Risk rs201948500(G;G)
Alt rs201948500(G;G)
Reference rs201948500(C;C)
Significance Pathogenic
Disease SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
Variation info
Gene DYNC2LI1
CLNDBN SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
Reversed 0
HGVS NC_000002.11:g.44021624C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000239697.1,