SNP Links for Gene (Select 1523) - SNP

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Select item 14915849261.

rs1491584926 has merged into rs111487536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 7:102099488 (GRCh38)
7:101742768 (GRCh37)
Canonical SPDI:: NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:102099475:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2821/1413 (1000Genomes)
HGVS:: NC_000007.14:g.102099488_102099489del, NC_000007.14:g.102099489del, NC_000007.14:g.102099489dup, NC_000007.14:g.102099488_102099489dup, NC_000007.14:g.102099487_102099489dup, NC_000007.14:g.102099486_102099489dup, NC_000007.13:g.101742768_101742769del, NC_000007.13:g.101742769del, NC_000007.13:g.101742769dup, NC_000007.13:g.101742768_101742769dup, NC_000007.13:g.101742767_101742769dup, NC_000007.13:g.101742766_101742769dup, NG_029476.2:g.288585_288586del, NG_029476.2:g.288586del, NG_029476.2:g.288586dup, NG_029476.2:g.288585_288586dup, NG_029476.2:g.288584_288586dup, NG_029476.2:g.288583_288586dup, NW_003571037.1:g.23818_23819del, NW_003571037.1:g.23819del, NW_003571037.1:g.23819dup, NW_003571037.1:g.23818_23819dup, NW_003571037.1:g.23817_23819dup, NW_003571037.1:g.23816_23819dup

Select item 14915789932.

rs1491578993 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAA [Show Flanks]
Chromosome:: 7:102211778 (GRCh38)
7:101855059 (GRCh37)
Canonical SPDI:: NC_000007.14:102211778:AA:AACAAAAA
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AACAAAAA=0./0 (ALFA)
AACAAA=0.00007/5 (GnomAD)
HGVS:: NC_000007.14:g.102211780_102211781insCAAAAA, NC_000007.13:g.101855060_101855061insCAAAAA, NG_029476.2:g.400877_400878insCAAAAA, NW_003571037.1:g.136110_136111insCAAAAA

Select item 14915757483.

rs1491575748 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:101943689 (GRCh38)
7:101586969 (GRCh37)
Canonical SPDI:: NC_000007.14:101943688:TA:
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.101943689_101943690del, NC_000007.13:g.101586969_101586970del, NG_029476.2:g.132786_132787del

Select item 14915730644.

rs1491573064 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTT [Show Flanks]
Chromosome:: 7:101870145 (GRCh38)
7:101513426 (GRCh37)
Canonical SPDI:: NC_000007.14:101870145:TTTTTT:TTTTTTGTTTTTT
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.101870146_101870151T[6]GTTTTTT[1], NC_000007.13:g.101513426_101513431T[6]GTTTTTT[1], NG_029476.2:g.59243_59248T[6]GTTTTTT[1]

Select item 14915709825.

rs1491570982 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:101857766 (GRCh38)
7:101501046 (GRCh37)
Canonical SPDI:: NC_000007.14:101857765:AT:
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.101857766_101857767del, NC_000007.13:g.101501046_101501047del, NG_029476.2:g.46863_46864del

Select item 14915466556.

rs1491546655 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:102035072 (GRCh38)
7:101678352 (GRCh37)
Canonical SPDI:: NC_000007.14:102035071:TA:
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.102035072_102035073del, NC_000007.13:g.101678352_101678353del, NG_029476.2:g.224169_224170del

Select item 14915419027.

rs1491541902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCA [Show Flanks]
Chromosome:: 7:102239420 (GRCh38)
7:101882701 (GRCh37)
Canonical SPDI:: NC_000007.14:102239420:CACCA:CACCACCA
Gene:: CUX1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCACCA=0.00013/3 (ALFA)
CAC=0.000036/9 (GnomAD_exomes)
CAC=0.000059/7 (ExAC)
CAC=0.000106/28 (TOPMED)
CAC=0.000121/17 (GnomAD)
CAC=0.00032/4 (GoESP)
HGVS:: NC_000007.14:g.102239423_102239425dup, NC_000007.13:g.101882703_101882705dup, NG_029476.2:g.428520_428522dup, NM_181552.4:c.3726_3728dup, NM_181552.3:c.3726_3728dup, NM_001202543.2:c.3759_3761dup, NM_001202543.1:c.3759_3761dup, NW_003571037.1:g.163753_163755dup, XM_005250150.4:c.3723_3725dup, XM_005250150.3:c.4023_4025dup, XM_005250150.2:c.4023_4025dup, XM_005250150.1:c.4023_4025dup, XM_017011760.3:c.3687_3689dup, XM_017011760.2:c.3687_3689dup, XM_017011760.1:c.3687_3689dup, XM_006715854.3:c.3660_3662dup, XM_006715854.2:c.3960_3962dup, XM_006715854.1:c.3960_3962dup, XM_011515825.3:c.3453_3455dup, XM_011515825.2:c.3453_3455dup, XM_011515825.1:c.3453_3455dup, XM_024446668.2:c.3414_3416dup, XM_024446668.1:c.3714_3716dup, XM_047419908.1:c.3756_3758dup, XM_047419909.1:c.3753_3755dup, XM_047419910.1:c.3750_3752dup, XM_047419906.1:c.3720_3722dup, XM_047419907.1:c.3717_3719dup, XM_047419912.1:c.3693_3695dup, XM_047419913.1:c.3690_3692dup, XM_047419914.1:c.3450_3452dup, XM_047419915.1:c.3447_3449dup, XM_047419911.1:c.3411_3413dup, XM_047419916.1:c.3387_3389dup, XM_047419917.1:c.3384_3386dup, NP_853530.2:p.His1242dup, NP_001189472.1:p.His1253dup, XP_005250207.2:p.His1241dup, XP_016867249.1:p.His1229dup, XP_006715917.2:p.His1220dup, XP_011514127.1:p.His1151dup, XP_024302436.2:p.His1138dup, XP_047275864.1:p.His1252dup, XP_047275865.1:p.His1251dup, XP_047275866.1:p.His1250dup, XP_047275862.1:p.His1240dup, XP_047275863.1:p.His1239dup, XP_047275868.1:p.His1231dup, XP_047275869.1:p.His1230dup, XP_047275870.1:p.His1150dup, XP_047275871.1:p.His1149dup, XP_047275867.1:p.His1137dup, XP_047275872.1:p.His1129dup, XP_047275873.1:p.His1128dup

Select item 14915382818.

rs1491538281 has merged into rs10589615 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:101893173 (GRCh38)
7:101536453 (GRCh37)
Canonical SPDI:: NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101893158:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.101893173_101893185del, NC_000007.14:g.101893175_101893185del, NC_000007.14:g.101893176_101893185del, NC_000007.14:g.101893177_101893185del, NC_000007.14:g.101893178_101893185del, NC_000007.14:g.101893179_101893185del, NC_000007.14:g.101893180_101893185del, NC_000007.14:g.101893183_101893185del, NC_000007.14:g.101893184_101893185del, NC_000007.14:g.101893185del, NC_000007.14:g.101893185dup, NC_000007.14:g.101893184_101893185dup, NC_000007.14:g.101893183_101893185dup, NC_000007.14:g.101893182_101893185dup, NC_000007.14:g.101893159_101893185T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.101893181_101893185dup, NC_000007.14:g.101893180_101893185dup, NC_000007.14:g.101893179_101893185dup, NC_000007.14:g.101893178_101893185dup, NC_000007.14:g.101893177_101893185dup, NC_000007.14:g.101893159_101893185T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.101893176_101893185dup, NC_000007.14:g.101893175_101893185dup, NC_000007.14:g.101893174_101893185dup, NC_000007.14:g.101893173_101893185dup, NC_000007.14:g.101893171_101893185dup, NC_000007.14:g.101893170_101893185dup, NC_000007.14:g.101893169_101893185dup, NC_000007.14:g.101893168_101893185dup, NC_000007.14:g.101893167_101893185dup, NC_000007.14:g.101893165_101893185dup, NC_000007.14:g.101893163_101893185dup, NC_000007.14:g.101893162_101893185dup, NC_000007.14:g.101893160_101893185dup, NC_000007.14:g.101893159_101893185dup, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.101893185_101893186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536453_101536465del, NC_000007.13:g.101536455_101536465del, NC_000007.13:g.101536456_101536465del, NC_000007.13:g.101536457_101536465del, NC_000007.13:g.101536458_101536465del, NC_000007.13:g.101536459_101536465del, NC_000007.13:g.101536460_101536465del, NC_000007.13:g.101536463_101536465del, NC_000007.13:g.101536464_101536465del, NC_000007.13:g.101536465del, NC_000007.13:g.101536465dup, NC_000007.13:g.101536464_101536465dup, NC_000007.13:g.101536463_101536465dup, NC_000007.13:g.101536462_101536465dup, NC_000007.13:g.101536439_101536465T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.101536461_101536465dup, NC_000007.13:g.101536460_101536465dup, NC_000007.13:g.101536459_101536465dup, NC_000007.13:g.101536458_101536465dup, NC_000007.13:g.101536457_101536465dup, NC_000007.13:g.101536439_101536465T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.101536456_101536465dup, NC_000007.13:g.101536455_101536465dup, NC_000007.13:g.101536454_101536465dup, NC_000007.13:g.101536453_101536465dup, NC_000007.13:g.101536451_101536465dup, NC_000007.13:g.101536450_101536465dup, NC_000007.13:g.101536449_101536465dup, NC_000007.13:g.101536448_101536465dup, NC_000007.13:g.101536447_101536465dup, NC_000007.13:g.101536445_101536465dup, NC_000007.13:g.101536443_101536465dup, NC_000007.13:g.101536442_101536465dup, NC_000007.13:g.101536440_101536465dup, NC_000007.13:g.101536439_101536465dup, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101536465_101536466insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82270_82282del, NG_029476.2:g.82272_82282del, NG_029476.2:g.82273_82282del, NG_029476.2:g.82274_82282del, NG_029476.2:g.82275_82282del, NG_029476.2:g.82276_82282del, NG_029476.2:g.82277_82282del, NG_029476.2:g.82280_82282del, NG_029476.2:g.82281_82282del, NG_029476.2:g.82282del, NG_029476.2:g.82282dup, NG_029476.2:g.82281_82282dup, NG_029476.2:g.82280_82282dup, NG_029476.2:g.82279_82282dup, NG_029476.2:g.82256_82282T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029476.2:g.82278_82282dup, NG_029476.2:g.82277_82282dup, NG_029476.2:g.82276_82282dup, NG_029476.2:g.82275_82282dup, NG_029476.2:g.82274_82282dup, NG_029476.2:g.82256_82282T[36]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029476.2:g.82273_82282dup, NG_029476.2:g.82272_82282dup, NG_029476.2:g.82271_82282dup, NG_029476.2:g.82270_82282dup, NG_029476.2:g.82268_82282dup, NG_029476.2:g.82267_82282dup, NG_029476.2:g.82266_82282dup, NG_029476.2:g.82265_82282dup, NG_029476.2:g.82264_82282dup, NG_029476.2:g.82262_82282dup, NG_029476.2:g.82260_82282dup, NG_029476.2:g.82259_82282dup, NG_029476.2:g.82257_82282dup, NG_029476.2:g.82256_82282dup, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.82282_82283insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915346609.

rs1491534660 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:102067230 (GRCh38)
7:101710511 (GRCh37)
Canonical SPDI:: NC_000007.14:102067230::G
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00023/3 (GnomAD)
HGVS:: NC_000007.14:g.102067230_102067231insG, NC_000007.13:g.101710510_101710511insG, NG_029476.2:g.256327_256328insG

Select item 149153355210.

rs1491533552 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:102269595 (GRCh38)
7:101912869 (GRCh37)
Canonical SPDI:: NC_000007.14:102269595::C
Gene:: CUX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.102269595_102269596insC, NW_003571037.1:g.193925_193926insC, NG_029476.2:g.458692_458693insC, NC_000007.13:g.101912868_101912869insC

Select item 149151696011.

rs1491516960 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:102260102 (GRCh38)
7:101903382 (GRCh37)
Canonical SPDI:: NC_000007.14:102260101:GA:
Gene:: CUX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.00032/5 (TOMMO)
-=0.00124/97 (GnomAD)
HGVS:: NC_000007.14:g.102260102_102260103del, NC_000007.13:g.101903382_101903383del, NG_029476.2:g.449199_449200del, NW_003571037.1:g.184432_184433del

Select item 149151555512.

rs1491515555 has merged into rs10564479 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCAGCAGCAGCA>-,GCA,GCAGCA,GCAGCAGCA,GCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCA [Show Flanks]
Chromosome:: 7:101958380 (GRCh38)
7:101601660 (GRCh37)
Canonical SPDI:: NC_000007.14:101958370:GCAGCAGCAGCAGCAGCAGCA:GCAGCAGCA,NC_000007.14:101958370:GCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCA,NC_000007.14:101958370:GCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCA,NC_000007.14:101958370:GCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCA,NC_000007.14:101958370:GCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCA,NC_000007.14:101958370:GCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCA
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCAGCAGCA=0./0 (ALFA)
GCA=0.136273/136 (GoNL)
GCA=0.140633/542 (ALSPAC)
GCA=0.141316/524 (TWINSUK)
GCA=0.151667/91 (NorthernSweden)
GCA=0.172368/45624 (TOPMED)
GCA=0.175/7 (GENOME_DK)
GCA=0.187946/842 (Estonian)
GCA=0.235024/1177 (1000Genomes)
GCA=0.391509/83 (Vietnamese)
GCA=0.397482/6661 (TOMMO)
HGVS:: NC_000007.14:g.101958371GCA[3], NC_000007.14:g.101958371GCA[4], NC_000007.14:g.101958371GCA[5], NC_000007.14:g.101958371GCA[6], NC_000007.14:g.101958371GCA[8], NC_000007.14:g.101958371GCA[9], NC_000007.13:g.101601651GCA[3], NC_000007.13:g.101601651GCA[4], NC_000007.13:g.101601651GCA[5], NC_000007.13:g.101601651GCA[6], NC_000007.13:g.101601651GCA[8], NC_000007.13:g.101601651GCA[9], NG_029476.2:g.147468GCA[3], NG_029476.2:g.147468GCA[4], NG_029476.2:g.147468GCA[5], NG_029476.2:g.147468GCA[6], NG_029476.2:g.147468GCA[8], NG_029476.2:g.147468GCA[9]

Select item 149151476213.

rs1491514762 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA [Show Flanks]
Chromosome:: 7:102060604 (GRCh38)
7:101703885 (GRCh37)
Canonical SPDI:: NC_000007.14:102060604:A:ACA,NC_000007.14:102060604:A:ACACA,NC_000007.14:102060604:A:ACACACACA,NC_000007.14:102060604:A:ACACACACACA,NC_000007.14:102060604:A:ACACACACACACA,NC_000007.14:102060604:A:ACACACACACACACA,NC_000007.14:102060604:A:ACACACACACACACACA,NC_000007.14:102060604:A:ACACACACACACACACACA,NC_000007.14:102060604:A:ACACACACACACACACACACA,NC_000007.14:102060604:A:ACACACACACACACACACACACA
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0./0 (ALFA)
HGVS:: NC_000007.14:g.102060605_102060606insCA, NC_000007.14:g.102060605_102060606insCACA, NC_000007.14:g.102060606CA[4], NC_000007.14:g.102060606CA[5], NC_000007.14:g.102060606CA[6], NC_000007.14:g.102060606CA[7], NC_000007.14:g.102060606CA[8], NC_000007.14:g.102060606CA[9], NC_000007.14:g.102060606CA[10], NC_000007.14:g.102060606CA[11], NC_000007.13:g.101703885_101703886insCA, NC_000007.13:g.101703885_101703886insCACA, NC_000007.13:g.101703886CA[4], NC_000007.13:g.101703886CA[5], NC_000007.13:g.101703886CA[6], NC_000007.13:g.101703886CA[7], NC_000007.13:g.101703886CA[8], NC_000007.13:g.101703886CA[9], NC_000007.13:g.101703886CA[10], NC_000007.13:g.101703886CA[11], NG_029476.2:g.249702_249703insCA, NG_029476.2:g.249702_249703insCACA, NG_029476.2:g.249703CA[4], NG_029476.2:g.249703CA[5], NG_029476.2:g.249703CA[6], NG_029476.2:g.249703CA[7], NG_029476.2:g.249703CA[8], NG_029476.2:g.249703CA[9], NG_029476.2:g.249703CA[10], NG_029476.2:g.249703CA[11]

Select item 149150308414.

rs1491503084 has merged into rs781912833 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 7:102186601 (GRCh38)
7:101829881 (GRCh37)
Canonical SPDI:: NC_000007.14:102186595:TTTTTTTTT:TTTTT,NC_000007.14:102186595:TTTTTTTTT:TTTTTTT,NC_000007.14:102186595:TTTTTTTTT:TTTTTTTT,NC_000007.14:102186595:TTTTTTTTT:TTTTTTTTTT,NC_000007.14:102186595:TTTTTTTTT:TTTTTTTTTTT,NC_000007.14:102186595:TTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:102186595:TTTTTTTTT:TTTTTTTTTTTTT
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TT=0.13131/78 (NorthernSweden)
HGVS:: NC_000007.14:g.102186601_102186604del, NC_000007.14:g.102186603_102186604del, NC_000007.14:g.102186604del, NC_000007.14:g.102186604dup, NC_000007.14:g.102186603_102186604dup, NC_000007.14:g.102186602_102186604dup, NC_000007.14:g.102186601_102186604dup, NC_000007.13:g.101829881_101829884del, NC_000007.13:g.101829883_101829884del, NC_000007.13:g.101829884del, NC_000007.13:g.101829884dup, NC_000007.13:g.101829883_101829884dup, NC_000007.13:g.101829882_101829884dup, NC_000007.13:g.101829881_101829884dup, NG_029476.2:g.375698_375701del, NG_029476.2:g.375700_375701del, NG_029476.2:g.375701del, NG_029476.2:g.375701dup, NG_029476.2:g.375700_375701dup, NG_029476.2:g.375699_375701dup, NG_029476.2:g.375698_375701dup, NW_003571037.1:g.110931_110934del, NW_003571037.1:g.110933_110934del, NW_003571037.1:g.110934del, NW_003571037.1:g.110934dup, NW_003571037.1:g.110933_110934dup, NW_003571037.1:g.110932_110934dup, NW_003571037.1:g.110931_110934dup

Select item 149150135015.

rs1491501350 [Homo sapiens]

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

Select item 149150102116.

rs1491501021 has merged into rs34912215 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:102067238 (GRCh38)
7:101710518 (GRCh37)
Canonical SPDI:: NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102067229:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.0229/85 (TWINSUK)
-=0.0241/93 (ALSPAC)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000007.14:g.102067238_102067251del, NC_000007.14:g.102067240_102067251del, NC_000007.14:g.102067241_102067251del, NC_000007.14:g.102067242_102067251del, NC_000007.14:g.102067243_102067251del, NC_000007.14:g.102067244_102067251del, NC_000007.14:g.102067246_102067251del, NC_000007.14:g.102067247_102067251del, NC_000007.14:g.102067248_102067251del, NC_000007.14:g.102067249_102067251del, NC_000007.14:g.102067250_102067251del, NC_000007.14:g.102067251del, NC_000007.14:g.102067251dup, NC_000007.14:g.102067250_102067251dup, NC_000007.14:g.102067249_102067251dup, NC_000007.14:g.102067248_102067251dup, NC_000007.14:g.102067247_102067251dup, NC_000007.14:g.102067246_102067251dup, NC_000007.14:g.102067245_102067251dup, NC_000007.14:g.102067244_102067251dup, NC_000007.14:g.102067243_102067251dup, NC_000007.14:g.102067242_102067251dup, NC_000007.14:g.102067241_102067251dup, NC_000007.14:g.102067251_102067252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.102067251_102067252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.102067251_102067252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101710518_101710531del, NC_000007.13:g.101710520_101710531del, NC_000007.13:g.101710521_101710531del, NC_000007.13:g.101710522_101710531del, NC_000007.13:g.101710523_101710531del, NC_000007.13:g.101710524_101710531del, NC_000007.13:g.101710526_101710531del, NC_000007.13:g.101710527_101710531del, NC_000007.13:g.101710528_101710531del, NC_000007.13:g.101710529_101710531del, NC_000007.13:g.101710530_101710531del, NC_000007.13:g.101710531del, NC_000007.13:g.101710531dup, NC_000007.13:g.101710530_101710531dup, NC_000007.13:g.101710529_101710531dup, NC_000007.13:g.101710528_101710531dup, NC_000007.13:g.101710527_101710531dup, NC_000007.13:g.101710526_101710531dup, NC_000007.13:g.101710525_101710531dup, NC_000007.13:g.101710524_101710531dup, NC_000007.13:g.101710523_101710531dup, NC_000007.13:g.101710522_101710531dup, NC_000007.13:g.101710521_101710531dup, NC_000007.13:g.101710531_101710532insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101710531_101710532insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101710531_101710532insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.256335_256348del, NG_029476.2:g.256337_256348del, NG_029476.2:g.256338_256348del, NG_029476.2:g.256339_256348del, NG_029476.2:g.256340_256348del, NG_029476.2:g.256341_256348del, NG_029476.2:g.256343_256348del, NG_029476.2:g.256344_256348del, NG_029476.2:g.256345_256348del, NG_029476.2:g.256346_256348del, NG_029476.2:g.256347_256348del, NG_029476.2:g.256348del, NG_029476.2:g.256348dup, NG_029476.2:g.256347_256348dup, NG_029476.2:g.256346_256348dup, NG_029476.2:g.256345_256348dup, NG_029476.2:g.256344_256348dup, NG_029476.2:g.256343_256348dup, NG_029476.2:g.256342_256348dup, NG_029476.2:g.256341_256348dup, NG_029476.2:g.256340_256348dup, NG_029476.2:g.256339_256348dup, NG_029476.2:g.256338_256348dup, NG_029476.2:g.256348_256349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.256348_256349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.256348_256349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149148847317.

rs1491488473 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:102108734 (GRCh38)
7:101752015 (GRCh37)
Canonical SPDI:: NC_000007.14:102108734:T:TGT,NC_000007.14:102108734:T:TGTGT,NC_000007.14:102108734:T:TGTGTGT,NC_000007.14:102108734:T:TGTGTGTGT,NC_000007.14:102108734:T:TGTGTGTGTGT,NC_000007.14:102108734:T:TGTGTGTGTGTGT,NC_000007.14:102108734:T:TGTGTGTGTGTGTGT,NC_000007.14:102108734:T:TGTGTGTGTGTGTGTGT,NC_000007.14:102108734:T:TGTGTGTGTGTGTGTGTGT,NC_000007.14:102108734:T:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:102108734:T:TGTGTGTGTGTGTGTGTGTGTGT
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102108735_102108736insGT, NC_000007.14:g.102108735_102108736insGTGT, NC_000007.14:g.102108736GT[3], NC_000007.14:g.102108736GT[4], NC_000007.14:g.102108736GT[5], NC_000007.14:g.102108736GT[6], NC_000007.14:g.102108736GT[7], NC_000007.14:g.102108736GT[8], NC_000007.14:g.102108736GT[9], NC_000007.14:g.102108736GT[10], NC_000007.14:g.102108736GT[11], NC_000007.13:g.101752015_101752016insGT, NC_000007.13:g.101752015_101752016insGTGT, NC_000007.13:g.101752016GT[3], NC_000007.13:g.101752016GT[4], NC_000007.13:g.101752016GT[5], NC_000007.13:g.101752016GT[6], NC_000007.13:g.101752016GT[7], NC_000007.13:g.101752016GT[8], NC_000007.13:g.101752016GT[9], NC_000007.13:g.101752016GT[10], NC_000007.13:g.101752016GT[11], NG_029476.2:g.297832_297833insGT, NG_029476.2:g.297832_297833insGTGT, NG_029476.2:g.297833GT[3], NG_029476.2:g.297833GT[4], NG_029476.2:g.297833GT[5], NG_029476.2:g.297833GT[6], NG_029476.2:g.297833GT[7], NG_029476.2:g.297833GT[8], NG_029476.2:g.297833GT[9], NG_029476.2:g.297833GT[10], NG_029476.2:g.297833GT[11], NW_003571037.1:g.33065_33066insGT, NW_003571037.1:g.33065_33066insGTGT, NW_003571037.1:g.33066GT[3], NW_003571037.1:g.33066GT[4], NW_003571037.1:g.33066GT[5], NW_003571037.1:g.33066GT[6], NW_003571037.1:g.33066GT[7], NW_003571037.1:g.33066GT[8], NW_003571037.1:g.33066GT[9], NW_003571037.1:g.33066GT[10], NW_003571037.1:g.33066GT[11]

Select item 149148455418.

rs1491484554 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:102084882 (GRCh38)
7:101728162 (GRCh37)
Canonical SPDI:: NC_000007.14:102084881:TG:
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.102084882_102084883del, NC_000007.13:g.101728162_101728163del, NG_029476.2:g.273979_273980del, NW_003571037.1:g.9212_9213del

Select item 149147889719.

rs1491478897 has merged into rs67147187 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:102021622 (GRCh38)
7:101664902 (GRCh37)
Canonical SPDI:: NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102021614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102021622_102021636del, NC_000007.14:g.102021623_102021636del, NC_000007.14:g.102021624_102021636del, NC_000007.14:g.102021625_102021636del, NC_000007.14:g.102021626_102021636del, NC_000007.14:g.102021627_102021636del, NC_000007.14:g.102021628_102021636del, NC_000007.14:g.102021629_102021636del, NC_000007.14:g.102021630_102021636del, NC_000007.14:g.102021631_102021636del, NC_000007.14:g.102021632_102021636del, NC_000007.14:g.102021633_102021636del, NC_000007.14:g.102021634_102021636del, NC_000007.14:g.102021635_102021636del, NC_000007.14:g.102021636del, NC_000007.14:g.102021636dup, NC_000007.14:g.102021635_102021636dup, NC_000007.14:g.102021634_102021636dup, NC_000007.14:g.102021633_102021636dup, NC_000007.14:g.102021632_102021636dup, NC_000007.14:g.102021631_102021636dup, NC_000007.14:g.102021630_102021636dup, NC_000007.14:g.102021629_102021636dup, NC_000007.14:g.102021628_102021636dup, NC_000007.14:g.102021627_102021636dup, NC_000007.14:g.102021626_102021636dup, NC_000007.14:g.102021625_102021636dup, NC_000007.14:g.102021622_102021636dup, NC_000007.14:g.102021636_102021637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.101664902_101664916del, NC_000007.13:g.101664903_101664916del, NC_000007.13:g.101664904_101664916del, NC_000007.13:g.101664905_101664916del, NC_000007.13:g.101664906_101664916del, NC_000007.13:g.101664907_101664916del, NC_000007.13:g.101664908_101664916del, NC_000007.13:g.101664909_101664916del, NC_000007.13:g.101664910_101664916del, NC_000007.13:g.101664911_101664916del, NC_000007.13:g.101664912_101664916del, NC_000007.13:g.101664913_101664916del, NC_000007.13:g.101664914_101664916del, NC_000007.13:g.101664915_101664916del, NC_000007.13:g.101664916del, NC_000007.13:g.101664916dup, NC_000007.13:g.101664915_101664916dup, NC_000007.13:g.101664914_101664916dup, NC_000007.13:g.101664913_101664916dup, NC_000007.13:g.101664912_101664916dup, NC_000007.13:g.101664911_101664916dup, NC_000007.13:g.101664910_101664916dup, NC_000007.13:g.101664909_101664916dup, NC_000007.13:g.101664908_101664916dup, NC_000007.13:g.101664907_101664916dup, NC_000007.13:g.101664906_101664916dup, NC_000007.13:g.101664905_101664916dup, NC_000007.13:g.101664902_101664916dup, NC_000007.13:g.101664916_101664917insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029476.2:g.210719_210733del, NG_029476.2:g.210720_210733del, NG_029476.2:g.210721_210733del, NG_029476.2:g.210722_210733del, NG_029476.2:g.210723_210733del, NG_029476.2:g.210724_210733del, NG_029476.2:g.210725_210733del, NG_029476.2:g.210726_210733del, NG_029476.2:g.210727_210733del, NG_029476.2:g.210728_210733del, NG_029476.2:g.210729_210733del, NG_029476.2:g.210730_210733del, NG_029476.2:g.210731_210733del, NG_029476.2:g.210732_210733del, NG_029476.2:g.210733del, NG_029476.2:g.210733dup, NG_029476.2:g.210732_210733dup, NG_029476.2:g.210731_210733dup, NG_029476.2:g.210730_210733dup, NG_029476.2:g.210729_210733dup, NG_029476.2:g.210728_210733dup, NG_029476.2:g.210727_210733dup, NG_029476.2:g.210726_210733dup, NG_029476.2:g.210725_210733dup, NG_029476.2:g.210724_210733dup, NG_029476.2:g.210723_210733dup, NG_029476.2:g.210722_210733dup, NG_029476.2:g.210719_210733dup, NG_029476.2:g.210733_210734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149147368520.

rs1491473685 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:101960038 (GRCh38)
7:101603319 (GRCh37)
Canonical SPDI:: NC_000007.14:101960038:A:AA
Gene:: CUX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101960039dup, NC_000007.13:g.101603319dup, NG_029476.2:g.149136dup

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