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: rs28934575
rs28934575
0.673 0.321 17 7674230 missense variant C/A,G,T snp
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 23 1991 2016
dbSNP: rs28934576
rs28934576
0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 23 1990 2017
dbSNP: rs28934578
rs28934578
0.647 0.357 17 7675088 missense variant snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 22 1991 2015
dbSNP: rs11540652
rs11540652
0.618 0.464 17 7674220 missense variant C/A,G,T snp 1.2E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 19 1991 2016
dbSNP: rs28934574
rs28934574
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 16 1996 2018
dbSNP: rs397514495
rs397514495
0.707 0.286 17 7675070 missense variant C/A,T snp 1.2E-05 3.2E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 14 1992 2015
dbSNP: rs121912664
rs121912664
0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 11 2000 2016
dbSNP: rs587780070
rs587780070
0.667 0.286 17 7675077 missense variant G/A,C,T snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 10 2002 2018
dbSNP: rs587782144
rs587782144
0.821 0.143 17 7675139 missense variant C/G,T snp 4.0E-06; 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 10 2003 2017
dbSNP: rs121912651
rs121912651
0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 7 1991 2011
dbSNP: rs28934574
rs28934574
0.667 0.393 17 7673776 missense variant G/A,C snp 4.0E-06
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.800 7 1992 2010
dbSNP: rs28934575
rs28934575
0.673 0.321 17 7674230 missense variant C/A,G,T snp
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.800 5 1991 1996
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 4 2006 2011
dbSNP: rs78378222
rs78378222
0.744 0.179 17 7668434 3 prime UTR variant T/G snp 1.2E-02
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
0.800 4 2011 2016
dbSNP: rs121912666
rs121912666
0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 3 1993 2006
dbSNP: rs121912656
rs121912656
0.667 0.500 17 7674229 missense variant C/A,G,T snp 4.0E-06; 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 2 1991 1991
dbSNP: rs121912657
rs121912657
0.679 0.464 17 7673806 missense variant C/A,T snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 2 1992 1992
dbSNP: rs281865547
rs281865547
1.000 17 7689284 missense variant C/A snp
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
0.800 2 1993 2011
dbSNP: rs28934873
rs28934873
0.923 0.107 17 7675214 start lost A/G snp
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 2 1991 1999
dbSNP: rs121912652
rs121912652
0.923 0.107 17 7674191 missense variant C/T snp
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 1 1991 1991
dbSNP: rs121912653
rs121912653
0.923 0.107 17 7674208 missense variant A/G snp
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 1 1991 1991
dbSNP: rs121912662
rs121912662
0.878 0.143 17 7670678 missense variant A/G snp
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 1 2000 2000
dbSNP: rs121912663
rs121912663
0.923 0.107 17 7673745 missense variant T/A,C snp 3.2E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 1 1999 1999
dbSNP: rs121912666
rs121912666
0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.800 1 2016 2016
dbSNP: rs28934875
rs28934875
0.878 0.107 17 7675200 missense variant C/G snp
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 1 1998 1998