Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
4 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.870 0.857 13 1993 2014
Spermatocytic seminoma
CUI: C0334517
Disease: Spermatocytic seminoma
4 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.800 6 1995 2009
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
30 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.800 5 1993 2008
Malignant neoplasm of urinary bladder
157 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.800 4 2001 2008
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
784 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.730 1.000 9 1995 2011
Seminoma
CUI: C0036631
Disease: Seminoma
13 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.710 1.000 1 2009 2009
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
13 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 5 2001 2017
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
37 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 5 2001 2017
Carcinoma
CUI: C0007097
Disease: Carcinoma
16 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 2 1999 2001
Acanthosis Nigricans
CUI: C0000889
Disease: Acanthosis Nigricans
8 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 1 2008 2008
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
165 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 1 2015 2015
EMBRYONAL CELL CARCINOMA
CUI: C3463918
Disease: EMBRYONAL CELL CARCINOMA
3 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 0
Nongerminomatous Germ Cell Tumor
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
4 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 0
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
12 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 0
Teratoma of testis
CUI: C0238451
Disease: Teratoma of testis
3 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 0
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
72 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 0
Yolk Sac Tumor
CUI: C0014145
Disease: Yolk Sac Tumor
4 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.700 0
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
12 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.050 1.000 5 1995 2014
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
2 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.040 1.000 4 1995 2014
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
13 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.030 1.000 3 2001 2009
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
51 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.030 1.000 3 2001 2009
Disorder of skeletal system
CUI: C0263661
Disease: Disorder of skeletal system
3 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.020 1.000 2 2000 2003
Lethal skeletal dysplasia
CUI: C4021626
Disease: Lethal skeletal dysplasia
1 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.020 1.000 2 1996 1997
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
2 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.010 1.000 1 2001 2001
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
159 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.010 1.000 1 2014 2014