SNP Links for Gene (Select 9631) - SNP

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Select item 14915620231.

rs1491562023 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:37367535 (GRCh38)
5:37367637 (GRCh37)
Canonical SPDI:: NC_000005.10:37367534:CT:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.37367535_37367536del, NC_000005.9:g.37367637_37367638del, NG_034131.1:g.8591_8592del

Select item 14915522022.

rs1491552202 has merged into rs58198308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:37368220 (GRCh38)
5:37368322 (GRCh37)
Canonical SPDI:: NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:37368209:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.37368220_37368237del, NC_000005.10:g.37368222_37368237del, NC_000005.10:g.37368223_37368237del, NC_000005.10:g.37368224_37368237del, NC_000005.10:g.37368225_37368237del, NC_000005.10:g.37368226_37368237del, NC_000005.10:g.37368227_37368237del, NC_000005.10:g.37368228_37368237del, NC_000005.10:g.37368229_37368237del, NC_000005.10:g.37368230_37368237del, NC_000005.10:g.37368231_37368237del, NC_000005.10:g.37368232_37368237del, NC_000005.10:g.37368233_37368237del, NC_000005.10:g.37368234_37368237del, NC_000005.10:g.37368235_37368237del, NC_000005.10:g.37368236_37368237del, NC_000005.10:g.37368237del, NC_000005.10:g.37368237dup, NC_000005.10:g.37368236_37368237dup, NC_000005.10:g.37368235_37368237dup, NC_000005.10:g.37368234_37368237dup, NC_000005.10:g.37368233_37368237dup, NC_000005.10:g.37368231_37368237dup, NC_000005.10:g.37368229_37368237dup, NC_000005.9:g.37368322_37368339del, NC_000005.9:g.37368324_37368339del, NC_000005.9:g.37368325_37368339del, NC_000005.9:g.37368326_37368339del, NC_000005.9:g.37368327_37368339del, NC_000005.9:g.37368328_37368339del, NC_000005.9:g.37368329_37368339del, NC_000005.9:g.37368330_37368339del, NC_000005.9:g.37368331_37368339del, NC_000005.9:g.37368332_37368339del, NC_000005.9:g.37368333_37368339del, NC_000005.9:g.37368334_37368339del, NC_000005.9:g.37368335_37368339del, NC_000005.9:g.37368336_37368339del, NC_000005.9:g.37368337_37368339del, NC_000005.9:g.37368338_37368339del, NC_000005.9:g.37368339del, NC_000005.9:g.37368339dup, NC_000005.9:g.37368338_37368339dup, NC_000005.9:g.37368337_37368339dup, NC_000005.9:g.37368336_37368339dup, NC_000005.9:g.37368335_37368339dup, NC_000005.9:g.37368333_37368339dup, NC_000005.9:g.37368331_37368339dup, NG_034131.1:g.7900_7917del, NG_034131.1:g.7902_7917del, NG_034131.1:g.7903_7917del, NG_034131.1:g.7904_7917del, NG_034131.1:g.7905_7917del, NG_034131.1:g.7906_7917del, NG_034131.1:g.7907_7917del, NG_034131.1:g.7908_7917del, NG_034131.1:g.7909_7917del, NG_034131.1:g.7910_7917del, NG_034131.1:g.7911_7917del, NG_034131.1:g.7912_7917del, NG_034131.1:g.7913_7917del, NG_034131.1:g.7914_7917del, NG_034131.1:g.7915_7917del, NG_034131.1:g.7916_7917del, NG_034131.1:g.7917del, NG_034131.1:g.7917dup, NG_034131.1:g.7916_7917dup, NG_034131.1:g.7915_7917dup, NG_034131.1:g.7914_7917dup, NG_034131.1:g.7913_7917dup, NG_034131.1:g.7911_7917dup, NG_034131.1:g.7909_7917dup

Select item 14915157503.

rs1491515750 has merged into rs59572976 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:37308884 (GRCh38)
5:37308986 (GRCh37)
Canonical SPDI:: NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37308875:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NUP155 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.37308884_37308901del, NC_000005.10:g.37308887_37308901del, NC_000005.10:g.37308890_37308901del, NC_000005.10:g.37308891_37308901del, NC_000005.10:g.37308892_37308901del, NC_000005.10:g.37308893_37308901del, NC_000005.10:g.37308894_37308901del, NC_000005.10:g.37308895_37308901del, NC_000005.10:g.37308896_37308901del, NC_000005.10:g.37308897_37308901del, NC_000005.10:g.37308898_37308901del, NC_000005.10:g.37308899_37308901del, NC_000005.10:g.37308900_37308901del, NC_000005.10:g.37308901del, NC_000005.10:g.37308901dup, NC_000005.10:g.37308900_37308901dup, NC_000005.10:g.37308899_37308901dup, NC_000005.10:g.37308898_37308901dup, NC_000005.10:g.37308897_37308901dup, NC_000005.10:g.37308896_37308901dup, NC_000005.10:g.37308895_37308901dup, NC_000005.10:g.37308894_37308901dup, NC_000005.10:g.37308893_37308901dup, NC_000005.10:g.37308892_37308901dup, NC_000005.10:g.37308891_37308901dup, NC_000005.10:g.37308888_37308901dup, NC_000005.10:g.37308887_37308901dup, NC_000005.9:g.37308986_37309003del, NC_000005.9:g.37308989_37309003del, NC_000005.9:g.37308992_37309003del, NC_000005.9:g.37308993_37309003del, NC_000005.9:g.37308994_37309003del, NC_000005.9:g.37308995_37309003del, NC_000005.9:g.37308996_37309003del, NC_000005.9:g.37308997_37309003del, NC_000005.9:g.37308998_37309003del, NC_000005.9:g.37308999_37309003del, NC_000005.9:g.37309000_37309003del, NC_000005.9:g.37309001_37309003del, NC_000005.9:g.37309002_37309003del, NC_000005.9:g.37309003del, NC_000005.9:g.37309003dup, NC_000005.9:g.37309002_37309003dup, NC_000005.9:g.37309001_37309003dup, NC_000005.9:g.37309000_37309003dup, NC_000005.9:g.37308999_37309003dup, NC_000005.9:g.37308998_37309003dup, NC_000005.9:g.37308997_37309003dup, NC_000005.9:g.37308996_37309003dup, NC_000005.9:g.37308995_37309003dup, NC_000005.9:g.37308994_37309003dup, NC_000005.9:g.37308993_37309003dup, NC_000005.9:g.37308990_37309003dup, NC_000005.9:g.37308989_37309003dup, NG_034131.1:g.67234_67251del, NG_034131.1:g.67237_67251del, NG_034131.1:g.67240_67251del, NG_034131.1:g.67241_67251del, NG_034131.1:g.67242_67251del, NG_034131.1:g.67243_67251del, NG_034131.1:g.67244_67251del, NG_034131.1:g.67245_67251del, NG_034131.1:g.67246_67251del, NG_034131.1:g.67247_67251del, NG_034131.1:g.67248_67251del, NG_034131.1:g.67249_67251del, NG_034131.1:g.67250_67251del, NG_034131.1:g.67251del, NG_034131.1:g.67251dup, NG_034131.1:g.67250_67251dup, NG_034131.1:g.67249_67251dup, NG_034131.1:g.67248_67251dup, NG_034131.1:g.67247_67251dup, NG_034131.1:g.67246_67251dup, NG_034131.1:g.67245_67251dup, NG_034131.1:g.67244_67251dup, NG_034131.1:g.67243_67251dup, NG_034131.1:g.67242_67251dup, NG_034131.1:g.67241_67251dup, NG_034131.1:g.67238_67251dup, NG_034131.1:g.67237_67251dup

Select item 14915064174.

rs1491506417 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:37299877 (GRCh38)
5:37299979 (GRCh37)
Canonical SPDI:: NC_000005.10:37299876:TA:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.37299877_37299878del, NC_000005.9:g.37299979_37299980del, NG_034131.1:g.76249_76250del

Select item 14914964015.

rs1491496401 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:37325768 (GRCh38)
5:37325870 (GRCh37)
Canonical SPDI:: NC_000005.10:37325767:CA:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000005.10:g.37325768_37325769del, NC_000005.9:g.37325870_37325871del, NG_034131.1:g.50358_50359del

Select item 14914838286.

rs1491483828 has merged into rs35161106 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:37345921 (GRCh38)
5:37346023 (GRCh37)
Canonical SPDI:: NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37345908:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.37345921_37345927del, NC_000005.10:g.37345922_37345927del, NC_000005.10:g.37345925_37345927del, NC_000005.10:g.37345926_37345927del, NC_000005.10:g.37345927del, NC_000005.10:g.37345927dup, NC_000005.10:g.37345926_37345927dup, NC_000005.10:g.37345925_37345927dup, NC_000005.10:g.37345927_37345928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.37346023_37346029del, NC_000005.9:g.37346024_37346029del, NC_000005.9:g.37346027_37346029del, NC_000005.9:g.37346028_37346029del, NC_000005.9:g.37346029del, NC_000005.9:g.37346029dup, NC_000005.9:g.37346028_37346029dup, NC_000005.9:g.37346027_37346029dup, NC_000005.9:g.37346029_37346030insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_034131.1:g.30212_30218del, NG_034131.1:g.30213_30218del, NG_034131.1:g.30216_30218del, NG_034131.1:g.30217_30218del, NG_034131.1:g.30218del, NG_034131.1:g.30218dup, NG_034131.1:g.30217_30218dup, NG_034131.1:g.30216_30218dup, NG_034131.1:g.30218_30219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914794987.

rs1491479498 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:37355563 (GRCh38)
5:37355665 (GRCh37)
Canonical SPDI:: NC_000005.10:37355561:TTT:T
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.000672/3 (Estonian)
-=0.003864/486 (GnomAD)
HGVS:: NC_000005.10:g.37355563_37355564del, NC_000005.9:g.37355665_37355666del, NG_034131.1:g.20564_20565del

Select item 14914552528.

rs1491455252 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:37345908 (GRCh38)
5:37346010 (GRCh37)
Canonical SPDI:: NC_000005.10:37345907:CA:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000005.10:g.37345908_37345909del, NC_000005.9:g.37346010_37346011del, NG_034131.1:g.30218_30219del

Select item 14914429839.

rs1491442983 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:37368209 (GRCh38)
5:37368311 (GRCh37)
Canonical SPDI:: NC_000005.10:37368208:CT:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000065/7 (GnomAD)
HGVS:: NC_000005.10:g.37368209_37368210del, NC_000005.9:g.37368311_37368312del, NG_034131.1:g.7917_7918del

Select item 149141861510.

rs1491418615 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:37370782 (GRCh38)
5:37370884 (GRCh37)
Canonical SPDI:: NC_000005.10:37370778:GAGAG:GAG
Gene:: NUP155 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000025/3 (ExAC)
HGVS:: NC_000005.10:g.37370780AG[1], NC_000005.9:g.37370882AG[1], NG_034131.1:g.5345TC[1], NM_004298.4:c.-137TC[1], NM_004298.3:c.-137TC[1]

Select item 149141260611.

rs1491412606 has merged into rs879236027 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 5:37292231 (GRCh38)
5:37292333 (GRCh37)
Canonical SPDI:: NC_000005.10:37292217:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:37292217:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:37292217:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:37292217:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:37292217:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.00084/14 (TOMMO)
HGVS:: NC_000005.10:g.37292231_37292233del, NC_000005.10:g.37292232_37292233del, NC_000005.10:g.37292233del, NC_000005.10:g.37292233dup, NC_000005.10:g.37292232_37292233dup, NC_000005.9:g.37292333_37292335del, NC_000005.9:g.37292334_37292335del, NC_000005.9:g.37292335del, NC_000005.9:g.37292335dup, NC_000005.9:g.37292334_37292335dup, NG_034131.1:g.83907_83909del, NG_034131.1:g.83908_83909del, NG_034131.1:g.83909del, NG_034131.1:g.83909dup, NG_034131.1:g.83908_83909dup

Select item 149140690112.

rs1491406901 has merged into rs397997409 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:37357410 (GRCh38)
5:37357512 (GRCh37)
Canonical SPDI:: NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37357399:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.37357410_37357426del, NC_000005.10:g.37357411_37357426del, NC_000005.10:g.37357412_37357426del, NC_000005.10:g.37357413_37357426del, NC_000005.10:g.37357414_37357426del, NC_000005.10:g.37357415_37357426del, NC_000005.10:g.37357416_37357426del, NC_000005.10:g.37357417_37357426del, NC_000005.10:g.37357418_37357426del, NC_000005.10:g.37357419_37357426del, NC_000005.10:g.37357420_37357426del, NC_000005.10:g.37357421_37357426del, NC_000005.10:g.37357422_37357426del, NC_000005.10:g.37357423_37357426del, NC_000005.10:g.37357424_37357426del, NC_000005.10:g.37357425_37357426del, NC_000005.10:g.37357426del, NC_000005.10:g.37357426dup, NC_000005.10:g.37357425_37357426dup, NC_000005.10:g.37357424_37357426dup, NC_000005.10:g.37357423_37357426dup, NC_000005.10:g.37357422_37357426dup, NC_000005.10:g.37357421_37357426dup, NC_000005.10:g.37357420_37357426dup, NC_000005.10:g.37357419_37357426dup, NC_000005.10:g.37357418_37357426dup, NC_000005.10:g.37357416_37357426dup, NC_000005.10:g.37357415_37357426dup, NC_000005.10:g.37357413_37357426dup, NC_000005.10:g.37357412_37357426dup, NC_000005.10:g.37357410_37357426dup, NC_000005.10:g.37357409_37357426dup, NC_000005.10:g.37357408_37357426dup, NC_000005.10:g.37357405_37357426dup, NC_000005.10:g.37357404_37357426dup, NC_000005.10:g.37357403_37357426dup, NC_000005.10:g.37357401_37357426dup, NC_000005.10:g.37357426_37357427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.37357426_37357427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.37357512_37357528del, NC_000005.9:g.37357513_37357528del, NC_000005.9:g.37357514_37357528del, NC_000005.9:g.37357515_37357528del, NC_000005.9:g.37357516_37357528del, NC_000005.9:g.37357517_37357528del, NC_000005.9:g.37357518_37357528del, NC_000005.9:g.37357519_37357528del, NC_000005.9:g.37357520_37357528del, NC_000005.9:g.37357521_37357528del, NC_000005.9:g.37357522_37357528del, NC_000005.9:g.37357523_37357528del, NC_000005.9:g.37357524_37357528del, NC_000005.9:g.37357525_37357528del, NC_000005.9:g.37357526_37357528del, NC_000005.9:g.37357527_37357528del, NC_000005.9:g.37357528del, NC_000005.9:g.37357528dup, NC_000005.9:g.37357527_37357528dup, NC_000005.9:g.37357526_37357528dup, NC_000005.9:g.37357525_37357528dup, NC_000005.9:g.37357524_37357528dup, NC_000005.9:g.37357523_37357528dup, NC_000005.9:g.37357522_37357528dup, NC_000005.9:g.37357521_37357528dup, NC_000005.9:g.37357520_37357528dup, NC_000005.9:g.37357518_37357528dup, NC_000005.9:g.37357517_37357528dup, NC_000005.9:g.37357515_37357528dup, NC_000005.9:g.37357514_37357528dup, NC_000005.9:g.37357512_37357528dup, NC_000005.9:g.37357511_37357528dup, NC_000005.9:g.37357510_37357528dup, NC_000005.9:g.37357507_37357528dup, NC_000005.9:g.37357506_37357528dup, NC_000005.9:g.37357505_37357528dup, NC_000005.9:g.37357503_37357528dup, NC_000005.9:g.37357528_37357529insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.37357528_37357529insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_034131.1:g.18711_18727del, NG_034131.1:g.18712_18727del, NG_034131.1:g.18713_18727del, NG_034131.1:g.18714_18727del, NG_034131.1:g.18715_18727del, NG_034131.1:g.18716_18727del, NG_034131.1:g.18717_18727del, NG_034131.1:g.18718_18727del, NG_034131.1:g.18719_18727del, NG_034131.1:g.18720_18727del, NG_034131.1:g.18721_18727del, NG_034131.1:g.18722_18727del, NG_034131.1:g.18723_18727del, NG_034131.1:g.18724_18727del, NG_034131.1:g.18725_18727del, NG_034131.1:g.18726_18727del, NG_034131.1:g.18727del, NG_034131.1:g.18727dup, NG_034131.1:g.18726_18727dup, NG_034131.1:g.18725_18727dup, NG_034131.1:g.18724_18727dup, NG_034131.1:g.18723_18727dup, NG_034131.1:g.18722_18727dup, NG_034131.1:g.18721_18727dup, NG_034131.1:g.18720_18727dup, NG_034131.1:g.18719_18727dup, NG_034131.1:g.18717_18727dup, NG_034131.1:g.18716_18727dup, NG_034131.1:g.18714_18727dup, NG_034131.1:g.18713_18727dup, NG_034131.1:g.18711_18727dup, NG_034131.1:g.18710_18727dup, NG_034131.1:g.18709_18727dup, NG_034131.1:g.18706_18727dup, NG_034131.1:g.18705_18727dup, NG_034131.1:g.18704_18727dup, NG_034131.1:g.18702_18727dup, NG_034131.1:g.18727_18728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034131.1:g.18727_18728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149140565413.

rs1491405654 has merged into rs397997402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 5:37307967 (GRCh38)
5:37308069 (GRCh37)
Canonical SPDI:: NC_000005.10:37307952:ATATATATATATATATAT:ATATATATATATAT,NC_000005.10:37307952:ATATATATATATATATAT:ATATATATATATATAT,NC_000005.10:37307952:ATATATATATATATATAT:ATATATATATATATATATAT
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
-=0.005/3 (NorthernSweden)
-=0.459263/1770 (ALSPAC)
-=0.468447/1737 (TWINSUK)
HGVS:: NC_000005.10:g.37307953AT[7], NC_000005.10:g.37307953AT[8], NC_000005.10:g.37307953AT[10], NC_000005.9:g.37308055AT[7], NC_000005.9:g.37308055AT[8], NC_000005.9:g.37308055AT[10], NG_034131.1:g.68157AT[7], NG_034131.1:g.68157AT[8], NG_034131.1:g.68157AT[10]

Select item 149139596514.

rs1491395965 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:37361265 (GRCh38)
5:37361367 (GRCh37)
Canonical SPDI:: NC_000005.10:37361264:CA:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.37361265_37361266del, NC_000005.9:g.37361367_37361368del, NG_034131.1:g.14861_14862del

Select item 149135533015.

rs1491355330 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:37294005 (GRCh38)
5:37294107 (GRCh37)
Canonical SPDI:: NC_000005.10:37294004:CA:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.37294005_37294006del, NC_000005.9:g.37294107_37294108del, NG_034131.1:g.82121_82122del

Select item 149130956116.

rs1491309561 has merged into rs11390520 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:37298250 (GRCh38)
5:37298352 (GRCh37)
Canonical SPDI:: NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:37298237:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: NUP155 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.37298250_37298253del, NC_000005.10:g.37298251_37298253del, NC_000005.10:g.37298252_37298253del, NC_000005.10:g.37298253del, NC_000005.10:g.37298253dup, NC_000005.10:g.37298252_37298253dup, NC_000005.10:g.37298251_37298253dup, NC_000005.10:g.37298250_37298253dup, NC_000005.9:g.37298352_37298355del, NC_000005.9:g.37298353_37298355del, NC_000005.9:g.37298354_37298355del, NC_000005.9:g.37298355del, NC_000005.9:g.37298355dup, NC_000005.9:g.37298354_37298355dup, NC_000005.9:g.37298353_37298355dup, NC_000005.9:g.37298352_37298355dup, NG_034131.1:g.77886_77889del, NG_034131.1:g.77887_77889del, NG_034131.1:g.77888_77889del, NG_034131.1:g.77889del, NG_034131.1:g.77889dup, NG_034131.1:g.77888_77889dup, NG_034131.1:g.77887_77889dup, NG_034131.1:g.77886_77889dup

Select item 149130896117.

rs1491308961 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:37355562 (GRCh38)
5:37355665 (GRCh37)
Canonical SPDI:: NC_000005.10:37355562::A
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000143/18 (GnomAD)
A=0.000849/14 (TOMMO)
A=0.003275/6 (Korea1K)
HGVS:: NC_000005.10:g.37355562_37355563insA, NC_000005.9:g.37355664_37355665insA, NG_034131.1:g.20564_20565insT

Select item 149129541618.

rs1491295416 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:37360786 (GRCh38)
5:37360888 (GRCh37)
Canonical SPDI:: NC_000005.10:37360785:AG:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000216/4 (ALFA)
-=0.000067/9 (GnomAD)
-=0.000893/4 (Estonian)
HGVS:: NC_000005.10:g.37360786_37360787del, NC_000005.9:g.37360888_37360889del, NG_034131.1:g.15340_15341del

Select item 149129028019.

rs1491290280 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AAGAAAAAAAAAAAAAAAAAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 149127331720.

rs1491273317 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:37308875 (GRCh38)
5:37308977 (GRCh37)
Canonical SPDI:: NC_000005.10:37308874:CA:
Gene:: NUP155 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000005.10:g.37308875_37308876del, NC_000005.9:g.37308977_37308978del, NG_034131.1:g.67251_67252del

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