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: rs768366978
rs768366978
NF1
0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.010 1.000 1 2012 2012
dbSNP: rs768366978
rs768366978
NF1
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: rs768366978
rs768366978
NF1
0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0018681
Disease: Headache
Headache 		0.010 1.000 1 2012 2012
dbSNP: rs768366978
rs768366978
NF1
0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 1.000 1 2012 2012
dbSNP: rs768366978
rs768366978
NF1
0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2012 2012