Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA ×
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: 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: 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: 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: 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: rs1064793083
rs1064793083 		0.882 0.080 8 60828682 missense variant C/T snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs1131692039
rs1131692039 		1.000 8 60849151 missense variant C/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs113938624
rs113938624 		1.000 8 60865578 missense variant C/T snv 8.0E-06 3.5E-05
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs121434338
rs121434338 		0.925 0.080 8 60822627 missense variant A/G snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs1563664506
rs1563664506 		0.925 0.080 8 60856161 frameshift variant A/- del
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs200220845
rs200220845 		0.925 0.080 8 60822027 stop gained C/A;T snv 1.2E-05
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs202143667
rs202143667 		1.000 8 60816506 splice region variant G/A snv 1.4E-05 7.7E-05
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs202208393
rs202208393 		1.000 8 60800422 missense variant G/A snv 7.2E-05 1.1E-04
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs587783450
rs587783450 		0.925 0.080 8 60852882 stop gained C/T snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs886039881
rs886039881 		1.000 8 60821823 missense variant C/T snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs886040962
rs886040962 		1.000 8 60865395 frameshift variant CT/- delins
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs886040985
rs886040985 		0.925 0.080 8 60823843 stop gained C/T snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0