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: rs1555374117
rs1555374117
MAGEL2
1.000 15 23644621 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1993 2015
dbSNP: rs1555374117
rs1555374117
MAGEL2
1.000 15 23644621 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2015
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2015
dbSNP: rs797044883
rs797044883
MAGEL2
0.882 0.160 15 23645831 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2015
dbSNP: rs797044883
rs797044883
MAGEL2
0.882 0.160 15 23645831 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1993 2015
dbSNP: rs398122416
rs398122416
MAGEL2
1.000 0.080 15 23645941 frameshift variant G/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs398122417
rs398122417
MAGEL2
1.000 0.080 15 23644561 frameshift variant AT/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs398122418
rs398122418
MAGEL2
1.000 0.080 15 23644619 stop gained G/A snv
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1060499934
rs1060499934
MAGEL2
1.000 0.080 15 23644785 frameshift variant C/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 0
dbSNP: rs1250752332
rs1250752332
MAGEL2
1.000 0.080 15 23647705 frameshift variant -/TG delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 0
dbSNP: rs1555374227
rs1555374227
MAGEL2
1.000 0.080 15 23645625 frameshift variant A/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 0
dbSNP: rs1555374290
rs1555374290
MAGEL2
1.000 0.080 15 23646122 stop gained G/A snv
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 0
dbSNP: rs1566784441
rs1566784441
MAGEL2
1.000 0.080 15 23645982 stop gained C/T snv
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 0
dbSNP: rs398122415
rs398122415
MAGEL2
1.000 0.080 15 23646091 frameshift variant A/- del
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1820737
Disease: Temperature instability
Temperature instability 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.700 0