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: rs1057519337
rs1057519337
AMMECR1
1.000 X 110264543 missense variant C/T snv
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.800 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1569405174
rs1569405174
AMMECR1 ; LOC105373312
X 110317618 frameshift variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0