Source: ALL

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: rs140709867
rs140709867
MLX ; COASY
1.000 17 42565668 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.800 0
dbSNP: rs668799
rs668799
COASY
17 42564217 non coding transcript exon variant C/T snv 0.28 0.24
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1567904066
rs1567904066
COASY
1.000 17 42563263 missense variant C/T snv
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 0
dbSNP: rs577714887
rs577714887
MLX ; COASY
1.000 17 42565656 splice region variant C/G snv 8.4E-05 7.0E-06
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.700 0
dbSNP: rs587777136
rs587777136
COASY
1.000 17 42562797 stop gained C/T snv
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 0
dbSNP: rs766482965
rs766482965
MLX ; COASY
1.000 17 42565720 frameshift variant AG/- delins 1.2E-05 2.1E-05
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 		0.700 0
dbSNP: rs1440530084
rs1440530084
COASY
0.882 0.040 17 42563227 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.030 1.000 3 2013 2017
dbSNP: rs761347168
rs761347168
COASY
1.000 17 42563226 missense variant C/T snv 8.0E-06
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.030 1.000 3 2013 2017
dbSNP: rs1440530084
rs1440530084
COASY
0.882 0.040 17 42563227 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia 		0.020 1.000 2 2017 2017
dbSNP: rs1440530084
rs1440530084
COASY
0.882 0.040 17 42563227 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs148652390
rs148652390
COASY
1.000 0.080 17 42564085 synonymous variant C/A;G;T snv 1.7E-04; 1.6E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2017 2017
dbSNP: rs598126
rs598126
COASY
0.925 0.080 17 42564502 synonymous variant A/G snv 0.53 0.50
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs598126
rs598126
COASY
0.925 0.080 17 42564502 synonymous variant A/G snv 0.53 0.50
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs746673818
rs746673818
COASY
17 42562625 start lost G/A snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2017 2017
dbSNP: rs746673818
rs746673818
COASY
17 42562625 start lost G/A snv
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2017 2017
dbSNP: rs764492939
rs764492939
COASY
17 42562414 start lost G/A snv 1.6E-05 2.1E-05
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2017 2017
dbSNP: rs764492939
rs764492939
COASY
17 42562414 start lost G/A snv 1.6E-05 2.1E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2017 2017