PRUNE1, prune exopolyphosphatase 1, 58497

N. diseases: 51; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057521927
rs1057521927 		1.000 1 151017860 missense variant G/A snv
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 1.000 3 2015 2017
dbSNP: rs773618224
rs773618224 		1.000 1 151018650 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 1.000 3 2015 2017
dbSNP: rs1085308033
rs1085308033 		1.000 1 151018494 missense variant C/A snv
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 0
dbSNP: rs752599948
rs752599948 		1.000 1 151028900 missense variant C/T snv 4.0E-06
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 0
dbSNP: rs767769359
rs767769359 		1.000 1 151024658 missense variant G/A;C;T snv 2.0E-05; 8.0E-06
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.800 0
dbSNP: rs1553251507
rs1553251507 		1 151008634 frameshift variant -/GGAGG delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2012 2017
dbSNP: rs1553253812
rs1553253812 		1 151025654 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2012 2017
dbSNP: rs11204762
rs11204762 		1 151027261 synonymous variant A/G snv 0.25 0.24
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs3738476
rs3738476 		1 151034063 synonymous variant C/A;G snv 0.85; 7.6E-04
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7532312
rs7532312 		1 151031889 intron variant C/A snv 0.88
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1057521927
rs1057521927 		1.000 1 151017860 missense variant G/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs200618384
rs200618384 		1.000 1 151024795 stop gained G/C;T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs200618384
rs200618384 		1.000 1 151024795 stop gained G/C;T snv
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.700 0
dbSNP: rs767769359
rs767769359 		1.000 1 151024658 missense variant G/A;C;T snv 2.0E-05; 8.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs773618224
rs773618224 		1.000 1 151018650 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs886039608
rs886039608 		1.000 1 151025513 splice acceptor variant A/G snv
CUI: C4479566
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 		0.700 0