SASH1, SAM and SH3 domain containing 1, 23328

N. diseases: 67; N. variants: 26
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: rs9497965
rs9497965 		1.000 0.040 6 148200156 regulatory region variant C/T snv 0.40
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.800 1.000 1 2013 2013
dbSNP: rs9497975
rs9497975 		1.000 6 148226666 regulatory region variant G/A snv 3.1E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.800 1.000 1 2009 2009
dbSNP: rs9497975
rs9497975 		1.000 6 148226666 regulatory region variant G/A snv 3.1E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.800 1.000 1 2009 2009
dbSNP: rs9497975
rs9497975 		1.000 6 148226666 regulatory region variant G/A snv 3.1E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs9497975
rs9497975 		1.000 6 148226666 regulatory region variant G/A snv 3.1E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs12191268
rs12191268 		1.000 0.040 6 148477321 intron variant A/G snv 4.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12191384
rs12191384 		1.000 0.040 6 148473896 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12199041
rs12199041 		1.000 0.040 6 148498580 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12527089
rs12527089 		1.000 0.040 6 148466023 intron variant C/T snv 4.5E-02
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome 		Wounds and Injuries 0.700 1.000 1 2016 2016
dbSNP: rs13208126
rs13208126 		1.000 0.040 6 148488795 intron variant T/C snv 0.17
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17642486
rs17642486 		1.000 0.040 6 148491064 intron variant T/C snv 6.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3817930
rs3817930 		1.000 0.040 6 148487276 intron variant G/A snv 0.72
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs41499949
rs41499949 		1.000 0.040 6 148484997 intron variant T/C snv 6.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6914622
rs6914622 		0.851 0.040 6 148193165 regulatory region variant G/T snv 0.33
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs6914622
rs6914622 		0.851 0.040 6 148193165 regulatory region variant G/T snv 0.33
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs6914622
rs6914622 		0.851 0.040 6 148193165 regulatory region variant G/T snv 0.33
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6914622
rs6914622 		0.851 0.040 6 148193165 regulatory region variant G/T snv 0.33
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6914622
rs6914622 		0.851 0.040 6 148193165 regulatory region variant G/T snv 0.33
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs6930337
rs6930337 		6 148466870 intron variant C/G;T snv
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		0.700 1.000 1 2008 2008
dbSNP: rs6930576
rs6930576 		1.000 0.120 6 148383818 intron variant G/A snv 0.36
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9285513
rs9285513 		1.000 0.040 6 148481590 intron variant T/G snv 9.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9322151
rs9322151 		1.000 0.040 6 148482414 intron variant G/T snv 0.74
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9390573
rs9390573 		1.000 0.040 6 148478976 non coding transcript exon variant A/T snv 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9497965
rs9497965 		1.000 0.040 6 148200156 regulatory region variant C/T snv 0.40
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2013 2013
dbSNP: rs9497965
rs9497965 		1.000 0.040 6 148200156 regulatory region variant C/T snv 0.40
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019