LAMB1, laminin subunit beta 1, 3912

N. diseases: 75; N. variants: 14
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: rs4727695
rs4727695 		7 107973558 intron variant A/G snv 8.3E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2018 2019
dbSNP: rs11760290
rs11760290 		7 107975623 intron variant T/C snv 0.10
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2237706
rs2237706 		1.000 0.080 7 107992726 intron variant C/T snv 7.5E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2020 2020
dbSNP: rs76335902
rs76335902 		7 107969061 intron variant A/C;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1554402678
rs1554402678 		1.000 7 107931500 missense variant C/T snv
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 0
dbSNP: rs1554406824
rs1554406824 		1.000 7 107959255 missense variant C/T snv
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 0
dbSNP: rs387907343
rs387907343 		1.000 7 107952145 stop gained TGACCAGTGGCTTT/ATTAGGAAGACACAAGCACATTAGGAAGACACAAGCACTGG delins
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 0
dbSNP: rs387907344
rs387907344 		1.000 7 107961205 splice donor variant C/A snv 4.0E-06
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 0
dbSNP: rs879255266
rs879255266 		1.000 7 107953678 frameshift variant C/- del
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 0
dbSNP: rs879255267
rs879255267 		1.000 7 107975026 missense variant C/A;T snv
CUI: C3554657
Disease: LISSENCEPHALY 5
LISSENCEPHALY 5 		0.700 0
dbSNP: rs20556
rs20556 		1.000 0.040 7 107953544 missense variant T/C snv 0.65 0.66
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2158836
rs2158836 		1.000 0.040 7 107940394 non coding transcript exon variant A/G snv 0.63 0.64
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs25659
rs25659 		1.000 0.040 7 107986325 synonymous variant G/A snv 0.12 0.11
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs4320486
rs4320486 		1.000 0.080 7 108003532 upstream gene variant C/T snv 0.43
CUI: C0032273
Disease: Pneumoconiosis
Pneumoconiosis 		Respiratory Tract Diseases; Occupational Diseases 0.010 1.000 1 2017 2017