Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1832597
Disease: Herniation of intervertebral nuclei
Herniation of intervertebral nuclei 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0566620
Disease: Nasal voice
Nasal voice 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1857479
Disease: Short columella
Short columella 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0748473
Disease: Arthritis, Sacroiliac
Arthritis, Sacroiliac 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4021988
Disease: Abnormality of the lumbar spine
Abnormality of the lumbar spine 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0