FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH 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: rs121909629
rs121909629 		0.882 0.200 8 38415905 missense variant C/T snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909630
rs121909630 		0.925 0.160 8 38428043 missense variant C/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909638
rs121909638 		0.882 0.280 8 38421853 missense variant A/G snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909639
rs121909639 		0.925 0.160 8 38415899 stop gained G/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs121909642
rs121909642 		0.925 0.160 8 38414174 missense variant G/A snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs397515444
rs397515444 		0.925 0.160 8 38417975 missense variant G/A;T snv 4.0E-06
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs397515445
rs397515445 		0.807 0.280 8 38414263 missense variant T/C snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs397515446
rs397515446 		0.925 0.160 8 38414599 missense variant C/T snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs587776835
rs587776835 		1.000 8 38418340 frameshift variant CA/- del
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs886037634
rs886037634 		0.925 0.160 8 38421836 missense variant C/T snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0