SNP Links for Gene (Select 5908) - SNP

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Select item 14915855571.

rs1491585557 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:68632140 (GRCh38)
12:69025921 (GRCh37)
Canonical SPDI:: NC_000012.12:68632140::G
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000066/8 (GnomAD)
G=0.002916/48 (TOMMO)
HGVS:: NC_000012.12:g.68632140_68632141insG, NC_000012.11:g.69025920_69025921insG

Select item 14915598812.

rs1491559881 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:68624021 (GRCh38)
12:69017801 (GRCh37)
Canonical SPDI:: NC_000012.12:68624020:AG:
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.68624021_68624022del, NC_000012.11:g.69017801_69017802del

Select item 14915078023.

rs1491507802 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:68613788 (GRCh38)
12:69007569 (GRCh37)
Canonical SPDI:: NC_000012.12:68613788:G:GG
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.68613789dup, NC_000012.11:g.69007569dup

Select item 14914405754.

rs1491440575 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:68613408 (GRCh38)
12:69007188 (GRCh37)
Canonical SPDI:: NC_000012.12:68613407:AG:
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000253/3 (ALFA)
-=0.000093/13 (GnomAD)
HGVS:: NC_000012.12:g.68613408_68613409del, NC_000012.11:g.69007188_69007189del

Select item 14913042545.

rs1491304254 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:68613792 (GRCh38)
12:69007572 (GRCh37)
Canonical SPDI:: NC_000012.12:68613787:AGAGAG:AGAG
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68613788AG[2], NC_000012.11:g.69007568AG[2]

Select item 14912330546.

rs1491233054 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:68624021 (GRCh38)
12:69017802 (GRCh37)
Canonical SPDI:: NC_000012.12:68624021:GGG:GGGG
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000169/2 (ALFA)
G=0.000065/9 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.68624024dup, NC_000012.11:g.69017804dup

Select item 14910685507.

rs1491068550 has merged into rs36224976 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:68618097 (GRCh38)
12:69011877 (GRCh37)
Canonical SPDI:: NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:68618086:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.68618097_68618111del, NC_000012.12:g.68618098_68618111del, NC_000012.12:g.68618099_68618111del, NC_000012.12:g.68618100_68618111del, NC_000012.12:g.68618101_68618111del, NC_000012.12:g.68618102_68618111del, NC_000012.12:g.68618103_68618111del, NC_000012.12:g.68618104_68618111del, NC_000012.12:g.68618105_68618111del, NC_000012.12:g.68618106_68618111del, NC_000012.12:g.68618107_68618111del, NC_000012.12:g.68618108_68618111del, NC_000012.12:g.68618109_68618111del, NC_000012.12:g.68618110_68618111del, NC_000012.12:g.68618111del, NC_000012.12:g.68618111dup, NC_000012.12:g.68618110_68618111dup, NC_000012.12:g.68618109_68618111dup, NC_000012.12:g.68618108_68618111dup, NC_000012.12:g.68618107_68618111dup, NC_000012.12:g.68618106_68618111dup, NC_000012.12:g.68618105_68618111dup, NC_000012.12:g.68618104_68618111dup, NC_000012.12:g.68618103_68618111dup, NC_000012.12:g.68618102_68618111dup, NC_000012.12:g.68618101_68618111dup, NC_000012.12:g.68618100_68618111dup, NC_000012.12:g.68618099_68618111dup, NC_000012.12:g.68618098_68618111dup, NC_000012.12:g.68618097_68618111dup, NC_000012.12:g.68618090_68618111dup, NC_000012.11:g.69011877_69011891del, NC_000012.11:g.69011878_69011891del, NC_000012.11:g.69011879_69011891del, NC_000012.11:g.69011880_69011891del, NC_000012.11:g.69011881_69011891del, NC_000012.11:g.69011882_69011891del, NC_000012.11:g.69011883_69011891del, NC_000012.11:g.69011884_69011891del, NC_000012.11:g.69011885_69011891del, NC_000012.11:g.69011886_69011891del, NC_000012.11:g.69011887_69011891del, NC_000012.11:g.69011888_69011891del, NC_000012.11:g.69011889_69011891del, NC_000012.11:g.69011890_69011891del, NC_000012.11:g.69011891del, NC_000012.11:g.69011891dup, NC_000012.11:g.69011890_69011891dup, NC_000012.11:g.69011889_69011891dup, NC_000012.11:g.69011888_69011891dup, NC_000012.11:g.69011887_69011891dup, NC_000012.11:g.69011886_69011891dup, NC_000012.11:g.69011885_69011891dup, NC_000012.11:g.69011884_69011891dup, NC_000012.11:g.69011883_69011891dup, NC_000012.11:g.69011882_69011891dup, NC_000012.11:g.69011881_69011891dup, NC_000012.11:g.69011880_69011891dup, NC_000012.11:g.69011879_69011891dup, NC_000012.11:g.69011878_69011891dup, NC_000012.11:g.69011877_69011891dup, NC_000012.11:g.69011870_69011891dup

Select item 14910380238.

rs1491038023 has merged into rs35769842 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 12:68641802 (GRCh38)
12:69035582 (GRCh37)
Canonical SPDI:: NC_000012.12:68641792:AAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:68641792:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:68641792:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:68641792:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:68641792:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:68641792:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.398454/567 (1000Genomes)
HGVS:: NC_000012.12:g.68641802_68641804del, NC_000012.12:g.68641803_68641804del, NC_000012.12:g.68641804del, NC_000012.12:g.68641804dup, NC_000012.12:g.68641803_68641804dup, NC_000012.12:g.68641802_68641804dup, NC_000012.11:g.69035582_69035584del, NC_000012.11:g.69035583_69035584del, NC_000012.11:g.69035584del, NC_000012.11:g.69035584dup, NC_000012.11:g.69035583_69035584dup, NC_000012.11:g.69035582_69035584dup

Select item 14910076899.

rs1491007689 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:68641805 (GRCh38)
12:69035585 (GRCh37)
Canonical SPDI:: NC_000012.12:68641803:ACA:A
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.68641805_68641806del, NC_000012.11:g.69035585_69035586del

Select item 149098597910.

rs1490985979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:68632567 (GRCh38)
12:69026347 (GRCh37)
Canonical SPDI:: NC_000012.12:68632566:T:G
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.68632567T>G, NC_000012.11:g.69026347T>G

Select item 149096259811.

rs1490962598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68619390 (GRCh38)
12:69013170 (GRCh37)
Canonical SPDI:: NC_000012.12:68619389:A:G
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68619390A>G, NC_000012.11:g.69013170A>G

Select item 149091702712.

rs1490917027 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCA [Show Flanks]
Chromosome:: 12:68654947 (GRCh38)
12:69048728 (GRCh37)
Canonical SPDI:: NC_000012.12:68654947:AGCA:AGCAAGCA
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGCAAGCA=0./0 (ALFA)
AGCA=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68654948_68654951dup, NC_000012.11:g.69048728_69048731dup

Select item 149079195513.

rs1490791955 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAA>- [Show Flanks]
Chromosome:: 12:68660444 (GRCh38)
12:69054224 (GRCh37)
Canonical SPDI:: NC_000012.12:68660439:TTAATTAA:TTAA
Gene:: RAP1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAATTAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.68660440TTAA[1], NC_000012.11:g.69054220TTAA[1], NM_015646.6:c.*1191TTAA[1], NM_015646.5:c.*1191TTAA[1], NM_001010942.3:c.*1191TTAA[1], NM_001010942.2:c.*1191TTAA[1], NM_001251921.2:c.*1191TTAA[1], NM_001251921.1:c.*1191TTAA[1], NM_001251917.2:c.*1191TTAA[1], NM_001251917.1:c.*1191TTAA[1], NM_001251918.2:c.*1191TTAA[1], NM_001251918.1:c.*1191TTAA[1], NM_001251922.2:c.*1191TTAA[1], NM_001251922.1:c.*1191TTAA[1]

Select item 149067286314.

rs1490672863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:68653760 (GRCh38)
12:69047540 (GRCh37)
Canonical SPDI:: NC_000012.12:68653759:C:G,NC_000012.12:68653759:C:T
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.68653760C>G, NC_000012.12:g.68653760C>T, NC_000012.11:g.69047540C>G, NC_000012.11:g.69047540C>T

Select item 149060322215.

rs1490603222 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:68640467 (GRCh38)
12:69034247 (GRCh37)
Canonical SPDI:: NC_000012.12:68640462:ATATAT:ATAT
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.68640463AT[2], NC_000012.11:g.69034243AT[2]

Select item 149059370416.

rs1490593704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68639650 (GRCh38)
12:69033430 (GRCh37)
Canonical SPDI:: NC_000012.12:68639649:A:G
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68639650A>G, NC_000012.11:g.69033430A>G

Select item 149052432617.

rs1490524326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68626890 (GRCh38)
12:69020670 (GRCh37)
Canonical SPDI:: NC_000012.12:68626889:A:G
Gene:: RAP1B (Varview), SNORA70G (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.68626890A>G, NC_000012.11:g.69020670A>G, NG_009853.3:g.398T>C

Select item 149048019418.

rs1490480194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:68634007 (GRCh38)
12:69027787 (GRCh37)
Canonical SPDI:: NC_000012.12:68634006:T:G
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.68634007T>G, NC_000012.11:g.69027787T>G

Select item 149042610219.

rs1490426102 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:68653928 (GRCh38)
12:69047709 (GRCh37)
Canonical SPDI:: NC_000012.12:68653928::A
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
HGVS:: NC_000012.12:g.68653928_68653929insA, NC_000012.11:g.69047708_69047709insA

Select item 149040082120.

rs1490400821 has merged into rs534162770 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 12:68618955 (GRCh38)
12:69012735 (GRCh37)
Canonical SPDI:: NC_000012.12:68618948:AAAAAAAAAAAA:AAAAAA,NC_000012.12:68618948:AAAAAAAAAAAA:AAAAAAA,NC_000012.12:68618948:AAAAAAAAAAAA:AAAAAAAA,NC_000012.12:68618948:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:68618948:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:68618948:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
-=0.00902/9 (GoNL)
HGVS:: NC_000012.12:g.68618955_68618960del, NC_000012.12:g.68618956_68618960del, NC_000012.12:g.68618957_68618960del, NC_000012.12:g.68618960del, NC_000012.12:g.68618960dup, NC_000012.12:g.68618959_68618960dup, NC_000012.11:g.69012735_69012740del, NC_000012.11:g.69012736_69012740del, NC_000012.11:g.69012737_69012740del, NC_000012.11:g.69012740del, NC_000012.11:g.69012740dup, NC_000012.11:g.69012739_69012740dup

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