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: rs1555042727
rs1555042727 		1.000 11 65867921 frameshift variant G/-;GG delins
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 1.000 2 1991 2016
dbSNP: rs10896064
rs10896064 		0.882 0.040 11 65873562 5 prime UTR variant G/C snv 0.45
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs10896064
rs10896064 		0.882 0.040 11 65873562 5 prime UTR variant G/C snv 0.45
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs10896064
rs10896064 		0.882 0.040 11 65873562 5 prime UTR variant G/C snv 0.45
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2234458
rs2234458 		11 65871903 non coding transcript exon variant C/A;G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs888015688
rs888015688 		1.000 11 65869977 splice acceptor variant C/G snv
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 1.000 1 2007 2007
dbSNP: rs119489101
rs119489101 		0.925 0.080 11 65871355 missense variant C/T snv 4.0E-06
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs119489102
rs119489102 		1.000 11 65868522 missense variant G/A snv
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs193302864
rs193302864 		1.000 11 65869976 missense variant T/G snv 8.0E-06
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs193302865
rs193302865 		1.000 11 65867957 frameshift variant -/GGGC delins 4.0E-06
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs193302866
rs193302866 		1.000 11 65868557 missense variant C/T snv
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs193302867
rs193302867 		1.000 11 65870650 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs193302868
rs193302868 		1.000 11 65867061 missense variant C/T snv
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs193302869
rs193302869 		1.000 11 65870649 missense variant T/A snv
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs193302870
rs193302870 		1.000 11 65870151 frameshift variant G/- delins
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs397514683
rs397514683 		1.000 11 65869905 missense variant G/A snv
CUI: C3280798
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		0.700 0
dbSNP: rs119489101
rs119489101 		0.925 0.080 11 65871355 missense variant C/T snv 4.0E-06
CUI: C2931134
Disease: Cutis laxa, recessive
Cutis laxa, recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015