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rs749035153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749035153(G;T)
Make rs749035153(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position223004295
GeneDISP1
is asnp
is mentioned by
dbSNPrs749035153
dbSNP (classic)rs749035153
ClinGenrs749035153
ebirs749035153
HLIrs749035153
Exacrs749035153
Gnomadrs749035153
Varsomers749035153
LitVarrs749035153
Maprs749035153
PheGenIrs749035153
Biobankrs749035153
1000 genomesrs749035153
hgdprs749035153
ensemblrs749035153
geneviewrs749035153
scholarrs749035153
googlers749035153
pharmgkbrs749035153
gwascentralrs749035153
openSNPrs749035153
23andMers749035153
SNPshotrs749035153
SNPdbers749035153
MSV3drs749035153
GWAS Ctlgrs749035153
Max Magnitude0
ClinVar
Risk rs749035153(A;A) rs749035153(T;T)
Alt rs749035153(A;A) rs749035153(T;T)
Reference Rs749035153(G;G)
Significance Probable-Pathogenic
Disease microform holoprosencephaly
Variation info
Gene DISP1
CLNDBN microform holoprosencephaly
Reversed 0
HGVS NC_000001.10:g.223177637G>A
CLNSRC
CLNACC RCV000223782.1,