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rs724159978

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159978(-;-)
Make rs724159978(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position30998907
GeneRNF135
is asnp
is mentioned by
dbSNPrs724159978
ebirs724159978
HLIrs724159978
Exacrs724159978
Varsomers724159978
Maprs724159978
PheGenIrs724159978
hapmaprs724159978
1000 genomesrs724159978
hgdprs724159978
ensemblrs724159978
gopubmedrs724159978
geneviewrs724159978
scholarrs724159978
googlers724159978
pharmgkbrs724159978
gwascentralrs724159978
openSNPrs724159978
23andMers724159978
23andMe allrs724159978
SNP Nexus

SNPshotrs724159978
SNPdbers724159978
MSV3drs724159978
GWAS Ctlgrs724159978
Max Magnitude0
ClinVar
Risk rs724159978(;)
Alt rs724159978(;)
Reference rs724159978(G;G)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene RNF135
CLNDBN Macrocephaly, macrosomia, facial dysmorphism syndrome
Reversed 0
HGVS NC_000017.10:g.29325925delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001028.3,