rs886041936, HDAC8

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Clinodactyly of the 4th toe
CUI: C4020740
Disease: Clinodactyly of the 4th toe
4 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Clinodactyly of the 5th toe
CUI: C4025741
Disease: Clinodactyly of the 5th toe
4 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
266 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
14 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
11 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Short 5th finger
CUI: C1842878
Disease: Short 5th finger
3 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Sparse scalp hair
CUI: C1857042
Disease: Sparse scalp hair
7 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0
Synophrys
CUI: C0431447
Disease: Synophrys
23 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0