LPAR6, lysophosphatidic acid receptor 6, 10161

N. diseases: 47; N. variants: 10
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: rs121434309
rs121434309 		1.000 0.040 13 48411859 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008
dbSNP: rs879255262
rs879255262 		1.000 0.040 13 48412236 missense variant T/A;C snv
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008
dbSNP: rs121434308
rs121434308 		1.000 0.040 13 48411988 missense variant C/T snv 8.6E-06 7.0E-06
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 1.000 2 2008 2014
dbSNP: rs121434307
rs121434307 		0.925 0.040 13 48411862 missense variant T/A;C snv 3.2E-05; 8.0E-06
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 1.000 1 2008 2008
dbSNP: rs115596308
rs115596308 		1.000 0.040 13 48411837 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434306
rs121434306 		1.000 0.040 13 48411961 stop gained G/A snv
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434307
rs121434307 		0.925 0.040 13 48411862 missense variant T/A;C snv 3.2E-05; 8.0E-06
CUI: C1848435
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS 		0.700 0
dbSNP: rs1566212378
rs1566212378 		1.000 0.040 13 48412050 frameshift variant TT/- delins
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2854344
rs2854344 		0.925 0.080 13 48423557 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2006
dbSNP: rs2854344
rs2854344 		0.925 0.080 13 48423557 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2006
dbSNP: rs2227311
rs2227311 		0.925 0.080 13 48412896 5 prime UTR variant A/G snv 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2227311
rs2227311 		0.925 0.080 13 48412896 5 prime UTR variant A/G snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs9568036
rs9568036 		1.000 0.080 13 48397800 intron variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9568036
rs9568036 		1.000 0.080 13 48397800 intron variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017