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: rs1064793083
rs1064793083 		0.882 0.080 8 60828682 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554588675
rs1554588675 		1.000 8 60781137 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554599036
rs1554599036 		1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465 		0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554602564
rs1554602564 		1.000 8 60845311 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs875989879
rs875989879 		0.925 0.080 8 60853017 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166 		1.000 8 60742366 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs121434343
rs121434343 		0.925 0.080 8 60853047 missense variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs121434344
rs121434344 		0.882 0.080 8 60816389 missense variant C/T snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs121434345
rs121434345 		1.000 8 60741596 missense variant A/G snv 8.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.800 1.000 3 2008 2014
dbSNP: rs1467824778
rs1467824778 		1.000 8 60865781 missense variant A/G snv 4.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs1554602465
rs1554602465 		0.882 0.080 8 60845063 missense variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs200806228
rs200806228 		0.925 0.080 8 60853500 missense variant G/A snv 2.0E-04 1.5E-04
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs398124321
rs398124321 		0.925 0.080 8 60850486 splice region variant G/A;T snv 4.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2004 2012
dbSNP: rs587783435
rs587783435 		1.000 8 60821922 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs759918327
rs759918327 		1.000 8 60850600 missense variant A/G snv 4.1E-06 7.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs772260091
rs772260091 		1.000 8 60820049 missense variant C/A;T snv 4.1E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs886041167
rs886041167 		1.000 8 60822634 missense variant A/C;G snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs794727423
rs794727423 		0.925 0.080 8 60850476 intron variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2006 2016
dbSNP: rs10094382
rs10094382 		8 60860726 intron variant C/T snv 0.46
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1064793994
rs1064793994 		1.000 8 60742393 stop gained G/A;T snv
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 1.000 1 2013 2013
dbSNP: rs10957156
rs10957156 		8 60716842 intron variant G/A snv 0.77
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C0332853
Disease: Anastomosis
Anastomosis 		0.010 1.000 1 2008 2008
dbSNP: rs13269361
rs13269361 		0.925 0.040 8 60694892 intron variant A/G snv 0.10
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018