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rs1057518660

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518660(-;-)
Make rs1057518660(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position155803005
GeneSHH
is asnp
is mentioned by
dbSNPrs1057518660
dbSNP (old)rs1057518660
ClinGenrs1057518660
ebirs1057518660
HLIrs1057518660
Exacrs1057518660
Gnomadrs1057518660
Varsomers1057518660
Maprs1057518660
PheGenIrs1057518660
Biobankrs1057518660
1000 genomesrs1057518660
hgdprs1057518660
ensemblrs1057518660
gopubmedrs1057518660
geneviewrs1057518660
scholarrs1057518660
googlers1057518660
pharmgkbrs1057518660
gwascentralrs1057518660
openSNPrs1057518660
23andMers1057518660
23andMe allrs1057518660
SNPshotrs1057518660
SNPdbers1057518660
MSV3drs1057518660
GWAS Ctlgrs1057518660
Max Magnitude0
ClinVar
Risk rs1057518660(-;-)
Alt rs1057518660(-;-)
Reference Rs1057518660(C;C)
Significance Pathogenic
Disease Holoprosencephaly 3
Variation info
Gene SHH
CLNDBN Holoprosencephaly 3
Reversed 1
HGVS NC_000007.13:g.155595699delG
CLNSRC
CLNACC RCV000415165.1,