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rs724159977

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159977(-;-)
Make rs724159977(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position30997304
GeneRNF135
is asnp
is mentioned by
dbSNPrs724159977
ebirs724159977
HLIrs724159977
Exacrs724159977
Varsomers724159977
Maprs724159977
PheGenIrs724159977
hapmaprs724159977
1000 genomesrs724159977
hgdprs724159977
ensemblrs724159977
gopubmedrs724159977
geneviewrs724159977
scholarrs724159977
googlers724159977
pharmgkbrs724159977
gwascentralrs724159977
openSNPrs724159977
23andMers724159977
23andMe allrs724159977
SNP Nexus

SNPshotrs724159977
SNPdbers724159977
MSV3drs724159977
GWAS Ctlgrs724159977
Max Magnitude0
ClinVar
Risk rs724159977(;)
Alt rs724159977(;)
Reference rs724159977(C;C)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene RNF135
CLNDBN Macrocephaly, macrosomia, facial dysmorphism syndrome
Reversed 0
HGVS NC_000017.10:g.29324322delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001027.3,