Source: BEFREE

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: rs121965020
rs121965020
IDUA ; SLC26A1
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.740 1.000 4 1992 2013
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.730 1.000 3 1992 2014
dbSNP: rs121965029
rs121965029
IDUA ; SLC26A1
0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.730 1.000 3 1993 2019
dbSNP: rs754966840
rs754966840
IDUA ; SLC26A1
0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.710 1.000 1 1995 2014
dbSNP: rs121965029
rs121965029
IDUA ; SLC26A1
0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.710 1.000 1 1996 1996
dbSNP: rs121908928
rs121908928
COCH ; LOC100506071
1.000 0.120 14 30878834 missense variant G/A;T snv 8.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.810 1.000 1 1998 2014
dbSNP: rs121908930
rs121908930
COCH ; LOC100506071
0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.810 1.000 1 1998 2014
dbSNP: rs2234675
rs2234675
PAX3 ; LOC107985991
1.000 0.040 2 222221236 missense variant G/A;T snv 4.0E-06; 2.7E-02
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.010 1.000 1 1998 1998
dbSNP: rs946135215
rs946135215
NEFH ; LOC107985541
1.000 0.080 22 29480368 missense variant G/A snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 1998 1998
dbSNP: rs28938175
rs28938175
COCH ; LOC100506071
0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.010 1.000 1 1999 1999
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.020 1.000 2 2000 2018
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
0.925 0.160 14 74493217 stop gained C/A;T snv 7.7E-05; 2.4E-05
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2 		0.710 1.000 1 2000 2011
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.857 7 2001 2018
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.030 1.000 3 2001 2008
dbSNP: rs363430
rs363430
BACH1 ; GRIK1 ; GRIK1-AS2
0.882 0.160 21 29598863 synonymous variant G/A snv 0.18 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2001 2001
dbSNP: rs10951154
rs10951154
HOXA1 ; HOTAIRM1
0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 0.750 4 2002 2009
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 1.000 2 2002 2008
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs199473364
rs199473364
KCNE2 ; LOC105372791
1.000 0.120 21 34370671 missense variant G/A;C snv 2.0E-05; 2.4E-05
CUI: C0340464
Disease: Premature Cardiac Complex
Premature Cardiac Complex 		0.010 1.000 1 2002 2002
dbSNP: rs755878795
rs755878795
RBP1 ; LOC100507291
1.000 0.040 3 139517664 missense variant C/G snv 4.4E-05 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs28938168
rs28938168
FXYD2 ; FXYD6-FXYD2
1.000 0.160 11 117822424 missense variant C/T snv
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		0.030 1.000 3 2003 2015
dbSNP: rs28938168
rs28938168
FXYD2 ; FXYD6-FXYD2
1.000 0.160 11 117822424 missense variant C/T snv
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.020 1.000 2 2003 2015
dbSNP: rs759223338
rs759223338
BACE1 ; BACE1-AS
0.925 0.080 11 117291736 synonymous variant G/C snv 1.6E-05 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2003 2016
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 0.667 3 2004 2013
dbSNP: rs121908388
rs121908388
CYLD ; LOC105371251
0.925 0.120 16 50792627 stop gained C/T snv
CUI: C1305968
Disease: Eccrine dermal cylindroma
Eccrine dermal cylindroma 		0.030 1.000 3 2004 2016