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rs752248403

From SNPedia

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 RCV000023880.3, RCV000023881.3,