NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
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: rs1064794276
rs1064794276 		0.925 0.120 17 31235639 frameshift variant TTTG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs137854562
rs137854562 		0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs1555533842
rs1555533842 		1.000 17 31330303 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs1555534380
rs1555534380 		1.000 17 31334860 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs1555535052
rs1555535052 		1.000 17 31338798 frameshift variant -/TA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs2854322
rs2854322 		17 31372398 intron variant T/C snv 0.47
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs2854322
rs2854322 		17 31372398 intron variant T/C snv 0.47
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs11080150
rs11080150 		17 31302308 intron variant A/G snv 0.36
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11080150
rs11080150 		17 31302308 intron variant A/G snv 0.36
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1279529138
rs1279529138 		0.882 0.160 17 31260516 splice donor variant G/A;T snv
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		0.700 1.000 1 2018 2018
dbSNP: rs143119709
rs143119709 		17 31165758 intron variant T/A snv 4.3E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs199474747
rs199474747 		0.925 0.120 17 31229155 missense variant T/C;G snv
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		0.700 1.000 1 2018 2018
dbSNP: rs2854322
rs2854322 		17 31372398 intron variant T/C snv 0.47
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2854322
rs2854322 		17 31372398 intron variant T/C snv 0.47
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3087591
rs3087591 		17 31303952 3 prime UTR variant A/G snv 0.29
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs7503951
rs7503951 		17 31332574 intron variant G/T snv 0.87
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs768366978
rs768366978 		0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C3887608
Disease: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 		0.010 1.000 1 2012 2012
dbSNP: rs797045139
rs797045139 		0.882 0.120 17 31327718 missense variant C/A;G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015
dbSNP: rs866445127
rs866445127 		0.851 0.240 17 31352348 stop gained C/T snv
CUI: C3887608
Disease: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 		0.010 1.000 1 2012 2012
dbSNP: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0
dbSNP: rs1057519369
rs1057519369 		0.790 0.280 17 31340532 frameshift variant -/G delins
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 0
dbSNP: rs1057519370
rs1057519370 		0.882 0.120 17 31159091 splice donor variant G/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1085307885
rs1085307885 		0.925 0.120 17 31338808 splice region variant A/G snv
CUI: C0349636
Disease: Pre B-cell acute lymphoblastic leukemia
Pre B-cell acute lymphoblastic leukemia 		0.700 0
dbSNP: rs1555535032
rs1555535032 		0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0