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: rs794726671
rs794726671 		1.000 0.120 4 54727520 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs1057519709
rs1057519709 		0.925 0.080 4 54733154 missense variant GA/AT mnv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057519713
rs1057519713 		0.925 0.120 4 54736498 missense variant G/C snv
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057520032
rs1057520032 		1.000 4 54727438 stop gained G/A;C snv 4.0E-06
CUI: C2698309
Disease: B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged 		0.700 0
dbSNP: rs1060502521
rs1060502521 		4 54733162 frameshift variant G/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913234
rs121913234 		4 54727414 splice region variant AAACCCATGTATGAAGTACAGTGGAAG/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C4749139
Disease: MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC 		0.700 0
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs121913514
rs121913514 		0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913517
rs121913517 		0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs121913517
rs121913517 		0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C4749053
Disease: MASTOCYTOSIS, SYSTEMIC, SOMATIC
MASTOCYTOSIS, SYSTEMIC, SOMATIC 		0.700 0
dbSNP: rs121913684
rs121913684 		0.925 0.120 4 54733094 missense variant A/G snv
CUI: C4016294
Disease: PIEBALDISM WITH SENSORINEURAL DEAFNESS
PIEBALDISM WITH SENSORINEURAL DEAFNESS 		0.700 0
dbSNP: rs121913685
rs121913685 		0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL 		0.700 0
dbSNP: rs121913685
rs121913685 		0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs145602440
rs145602440 		1.000 0.080 4 54733118 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1553887262
rs1553887262 		4 54695552 frameshift variant -/T ins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1553887960
rs1553887960 		4 54699760 frameshift variant TCAG/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560395607
rs1560395607 		4 54698334 frameshift variant A/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417385
rs1560417385 		4 54727420 inframe deletion CCATGTATGAAGTACAGTGGA/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417396
rs1560417396 		4 54727421 protein altering variant CATGTATG/AA delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417427
rs1560417427 		4 54727433 protein altering variant ACAGTGGA/CC delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1560417438
rs1560417438 		4 54727436 frameshift variant GTGGAAGGTTGTTGAGGAG/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0