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rs752248403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs752248403(-;-)
Make rs752248403(-;CG)
Make rs752248403(CG;CG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position89631709
GeneKIF7
is asnp
is mentioned by
dbSNPrs752248403
dbSNP (old)rs752248403
ClinGenrs752248403
ebirs752248403
HLIrs752248403
Exacrs752248403
Gnomadrs752248403
Varsomers752248403
Maprs752248403
PheGenIrs752248403
Biobankrs752248403
1000 genomesrs752248403
hgdprs752248403
ensemblrs752248403
gopubmedrs752248403
geneviewrs752248403
scholarrs752248403
googlers752248403
pharmgkbrs752248403
gwascentralrs752248403
openSNPrs752248403
23andMers752248403
23andMe allrs752248403
SNP Nexus

SNPshotrs752248403
SNPdbers752248403
MSV3drs752248403
GWAS Ctlgrs752248403
Max Magnitude0
ClinVar
Risk rs752248403(-;-)
Alt rs752248403(-;-)
Reference Rs752248403(GC;GC)
Significance Pathogenic
Disease Hydrolethalus syndrome 2 Acrocallosal syndrome
Variation info
Gene KIF7
CLNDBN Hydrolethalus syndrome 2 Acrocallosal syndrome, Schinzel type
Reversed 0
HGVS NC_000015.9:g.90174940_90174941delGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023880.5, RCV000023881.4,