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rs757167361

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs757167361(C;C)
Make rs757167361(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position2030171
GeneDPH1
is asnp
is mentioned by
dbSNPrs757167361
ebirs757167361
HLIrs757167361
Exacrs757167361
Varsomers757167361
Maprs757167361
PheGenIrs757167361
hapmaprs757167361
1000 genomesrs757167361
hgdprs757167361
ensemblrs757167361
gopubmedrs757167361
geneviewrs757167361
scholarrs757167361
googlers757167361
pharmgkbrs757167361
gwascentralrs757167361
openSNPrs757167361
23andMers757167361
23andMe allrs757167361
SNP Nexus

SNPshotrs757167361
SNPdbers757167361
MSV3drs757167361
GWAS Ctlgrs757167361
Max Magnitude0
ClinVar
Risk rs757167361(C;C)
Alt rs757167361(C;C)
Reference rs757167361(T;T)
Significance Pathogenic
Disease not provided Developmental delay with short stature
Variation info
Gene DPH1
CLNDBN not provided Developmental delay with short stature, dysmorphic features, and sparse hair
Reversed 0
HGVS NC_000017.10:g.1933465T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203304.1, RCV000210881.1,