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rs797044922

From SNPedia

ClinVar
Risk rs797044922(GAA;GAA)
Alt rs797044922(GAA;GAA)
Reference rs797044922(TGTTG;TGTTG)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene PTCHD1
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000023.10:g.23411470_23411474delTGTTGinsGAA
CLNSRC
CLNACC RCV000190759.1,