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Select item 14915559401.

rs1491555940 has merged into rs1553233153 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 1:167473127 (GRCh38)
1:167442364 (GRCh37)
Canonical SPDI:: NC_000001.11:167473125:CCC:C,NC_000001.11:167473125:CCC:CCCCC
Gene:: CD247 (Varview), LOC101928512 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.001163/19 (ALFA)
-=0.001594/221 (GnomAD)
HGVS:: NC_000001.11:g.167473127_167473128del, NC_000001.11:g.167473127_167473128dup, NC_000001.10:g.167442364_167442365del, NC_000001.10:g.167442364_167442365dup, NG_007384.1:g.50483_50484del, NG_007384.1:g.50483_50484dup

Select item 14915403602.

rs1491540360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAAATGTG [Show Flanks]
Chromosome:: 1:167434966 (GRCh38)
1:167404204 (GRCh37)
Canonical SPDI:: NC_000001.11:167434966:G:GTCAAATGTG
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.167434967_167434968insTCAAATGTG, NC_000001.10:g.167404204_167404205insTCAAATGTG, NG_007384.1:g.88643CA[2]TTTGAC[1]

Select item 14915378323.

rs1491537832 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:167452412 (GRCh38)
1:167421650 (GRCh37)
Canonical SPDI:: NC_000001.11:167452412::C
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.167452412_167452413insC, NC_000001.10:g.167421649_167421650insC, NG_007384.1:g.71197_71198insG

Select item 14915282114.

rs1491528211 has merged into rs55679205 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:167470519 (GRCh38)
1:167439756 (GRCh37)
Canonical SPDI:: NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167470504:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CD247 (Varview), LOC101928512 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0./0 (ALSPAC)
AA=0./0 (TWINSUK)
AA=0.137/686 (1000Genomes)
HGVS:: NC_000001.11:g.167470519_167470527del, NC_000001.11:g.167470521_167470527del, NC_000001.11:g.167470522_167470527del, NC_000001.11:g.167470523_167470527del, NC_000001.11:g.167470524_167470527del, NC_000001.11:g.167470525_167470527del, NC_000001.11:g.167470526_167470527del, NC_000001.11:g.167470527del, NC_000001.11:g.167470527dup, NC_000001.11:g.167470526_167470527dup, NC_000001.11:g.167470525_167470527dup, NC_000001.11:g.167470524_167470527dup, NC_000001.11:g.167470523_167470527dup, NC_000001.11:g.167470522_167470527dup, NC_000001.11:g.167470521_167470527dup, NC_000001.11:g.167470520_167470527dup, NC_000001.11:g.167470519_167470527dup, NC_000001.11:g.167470518_167470527dup, NC_000001.11:g.167470512_167470527dup, NC_000001.11:g.167470506_167470527dup, NC_000001.11:g.167470505_167470527dup, NC_000001.11:g.167470527_167470528insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.167470505_167470527A[30]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.167470505_167470527A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.167439756_167439764del, NC_000001.10:g.167439758_167439764del, NC_000001.10:g.167439759_167439764del, NC_000001.10:g.167439760_167439764del, NC_000001.10:g.167439761_167439764del, NC_000001.10:g.167439762_167439764del, NC_000001.10:g.167439763_167439764del, NC_000001.10:g.167439764del, NC_000001.10:g.167439764dup, NC_000001.10:g.167439763_167439764dup, NC_000001.10:g.167439762_167439764dup, NC_000001.10:g.167439761_167439764dup, NC_000001.10:g.167439760_167439764dup, NC_000001.10:g.167439759_167439764dup, NC_000001.10:g.167439758_167439764dup, NC_000001.10:g.167439757_167439764dup, NC_000001.10:g.167439756_167439764dup, NC_000001.10:g.167439755_167439764dup, NC_000001.10:g.167439749_167439764dup, NC_000001.10:g.167439743_167439764dup, NC_000001.10:g.167439742_167439764dup, NC_000001.10:g.167439764_167439765insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.167439742_167439764A[30]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.167439742_167439764A[23]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_007384.1:g.53097_53105del, NG_007384.1:g.53099_53105del, NG_007384.1:g.53100_53105del, NG_007384.1:g.53101_53105del, NG_007384.1:g.53102_53105del, NG_007384.1:g.53103_53105del, NG_007384.1:g.53104_53105del, NG_007384.1:g.53105del, NG_007384.1:g.53105dup, NG_007384.1:g.53104_53105dup, NG_007384.1:g.53103_53105dup, NG_007384.1:g.53102_53105dup, NG_007384.1:g.53101_53105dup, NG_007384.1:g.53100_53105dup, NG_007384.1:g.53099_53105dup, NG_007384.1:g.53098_53105dup, NG_007384.1:g.53097_53105dup, NG_007384.1:g.53096_53105dup, NG_007384.1:g.53090_53105dup, NG_007384.1:g.53084_53105dup, NG_007384.1:g.53083_53105dup, NG_007384.1:g.53105_53106insTTTTTTTTTTTTTTTTTTTTTTTT, NG_007384.1:g.53083_53105T[23]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007384.1:g.53083_53105T[30]ATTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914084695.

rs1491408469 has merged into rs765176193 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:167465335 (GRCh38)
1:167434572 (GRCh37)
Canonical SPDI:: NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167465327:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CD247 (Varview), LOC101928512 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.167465335_167465345del, NC_000001.11:g.167465338_167465345del, NC_000001.11:g.167465339_167465345del, NC_000001.11:g.167465340_167465345del, NC_000001.11:g.167465341_167465345del, NC_000001.11:g.167465342_167465345del, NC_000001.11:g.167465344_167465345del, NC_000001.11:g.167465345del, NC_000001.11:g.167465345dup, NC_000001.11:g.167465344_167465345dup, NC_000001.11:g.167465343_167465345dup, NC_000001.11:g.167465342_167465345dup, NC_000001.11:g.167465341_167465345dup, NC_000001.11:g.167465340_167465345dup, NC_000001.11:g.167465339_167465345dup, NC_000001.11:g.167465338_167465345dup, NC_000001.11:g.167465337_167465345dup, NC_000001.11:g.167465336_167465345dup, NC_000001.11:g.167465335_167465345dup, NC_000001.11:g.167465330_167465345dup, NC_000001.11:g.167465329_167465345dup, NC_000001.11:g.167465328_167465345dup, NC_000001.11:g.167465345_167465346insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.167465345_167465346insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.167465345_167465346insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.167465345_167465346insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167434572_167434582del, NC_000001.10:g.167434575_167434582del, NC_000001.10:g.167434576_167434582del, NC_000001.10:g.167434577_167434582del, NC_000001.10:g.167434578_167434582del, NC_000001.10:g.167434579_167434582del, NC_000001.10:g.167434581_167434582del, NC_000001.10:g.167434582del, NC_000001.10:g.167434582dup, NC_000001.10:g.167434581_167434582dup, NC_000001.10:g.167434580_167434582dup, NC_000001.10:g.167434579_167434582dup, NC_000001.10:g.167434578_167434582dup, NC_000001.10:g.167434577_167434582dup, NC_000001.10:g.167434576_167434582dup, NC_000001.10:g.167434575_167434582dup, NC_000001.10:g.167434574_167434582dup, NC_000001.10:g.167434573_167434582dup, NC_000001.10:g.167434572_167434582dup, NC_000001.10:g.167434567_167434582dup, NC_000001.10:g.167434566_167434582dup, NC_000001.10:g.167434565_167434582dup, NC_000001.10:g.167434582_167434583insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167434582_167434583insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167434582_167434583insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167434582_167434583insTTTTTTTTTTTTTTTTTTTTTTT, NG_007384.1:g.58272_58282del, NG_007384.1:g.58275_58282del, NG_007384.1:g.58276_58282del, NG_007384.1:g.58277_58282del, NG_007384.1:g.58278_58282del, NG_007384.1:g.58279_58282del, NG_007384.1:g.58281_58282del, NG_007384.1:g.58282del, NG_007384.1:g.58282dup, NG_007384.1:g.58281_58282dup, NG_007384.1:g.58280_58282dup, NG_007384.1:g.58279_58282dup, NG_007384.1:g.58278_58282dup, NG_007384.1:g.58277_58282dup, NG_007384.1:g.58276_58282dup, NG_007384.1:g.58275_58282dup, NG_007384.1:g.58274_58282dup, NG_007384.1:g.58273_58282dup, NG_007384.1:g.58272_58282dup, NG_007384.1:g.58267_58282dup, NG_007384.1:g.58266_58282dup, NG_007384.1:g.58265_58282dup, NG_007384.1:g.58282_58283insAAAAAAAAAAAAAAAAAAA, NG_007384.1:g.58282_58283insAAAAAAAAAAAAAAAAAAAAA, NG_007384.1:g.58282_58283insAAAAAAAAAAAAAAAAAAAAAA, NG_007384.1:g.58282_58283insAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913491046.

rs1491349104 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:167453010 (GRCh38)
1:167422247 (GRCh37)
Canonical SPDI:: NC_000001.11:167453009:CA:
Gene:: CD247 (Varview), LOC101928512 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.00046/25 (GnomAD)
HGVS:: NC_000001.11:g.167453010_167453011del, NC_000001.10:g.167422247_167422248del, NG_007384.1:g.70599_70600del

Select item 14913432787.

rs1491343278 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:167447967 (GRCh38)
1:167417204 (GRCh37)
Canonical SPDI:: NC_000001.11:167447965:GTG:G
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001/14 (ALFA)
-=0.00135/22 (TOMMO)
-=0.00766/14 (Korea1K)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000001.11:g.167447967_167447968del, NC_000001.10:g.167417204_167417205del, NG_007384.1:g.75643_75644del

Select item 14912729958.

rs1491272995 has merged into rs3070395 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:167458701 (GRCh38)
1:167427938 (GRCh37)
Canonical SPDI:: NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167458689:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CD247 (Varview), LOC101928512 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTT=0.0964/483 (1000Genomes)
HGVS:: NC_000001.11:g.167458701_167458715del, NC_000001.11:g.167458702_167458715del, NC_000001.11:g.167458703_167458715del, NC_000001.11:g.167458704_167458715del, NC_000001.11:g.167458705_167458715del, NC_000001.11:g.167458706_167458715del, NC_000001.11:g.167458707_167458715del, NC_000001.11:g.167458708_167458715del, NC_000001.11:g.167458709_167458715del, NC_000001.11:g.167458710_167458715del, NC_000001.11:g.167458711_167458715del, NC_000001.11:g.167458712_167458715del, NC_000001.11:g.167458713_167458715del, NC_000001.11:g.167458714_167458715del, NC_000001.11:g.167458715del, NC_000001.11:g.167458715dup, NC_000001.11:g.167458714_167458715dup, NC_000001.11:g.167458713_167458715dup, NC_000001.11:g.167458712_167458715dup, NC_000001.11:g.167458711_167458715dup, NC_000001.11:g.167458710_167458715dup, NC_000001.11:g.167458709_167458715dup, NC_000001.11:g.167458708_167458715dup, NC_000001.11:g.167458707_167458715dup, NC_000001.11:g.167458706_167458715dup, NC_000001.11:g.167458705_167458715dup, NC_000001.11:g.167458704_167458715dup, NC_000001.11:g.167458703_167458715dup, NC_000001.11:g.167458702_167458715dup, NC_000001.11:g.167458701_167458715dup, NC_000001.11:g.167458700_167458715dup, NC_000001.11:g.167458699_167458715dup, NC_000001.11:g.167458698_167458715dup, NC_000001.11:g.167458697_167458715dup, NC_000001.11:g.167458696_167458715dup, NC_000001.11:g.167458715_167458716insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.167458715_167458716insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167427938_167427952del, NC_000001.10:g.167427939_167427952del, NC_000001.10:g.167427940_167427952del, NC_000001.10:g.167427941_167427952del, NC_000001.10:g.167427942_167427952del, NC_000001.10:g.167427943_167427952del, NC_000001.10:g.167427944_167427952del, NC_000001.10:g.167427945_167427952del, NC_000001.10:g.167427946_167427952del, NC_000001.10:g.167427947_167427952del, NC_000001.10:g.167427948_167427952del, NC_000001.10:g.167427949_167427952del, NC_000001.10:g.167427950_167427952del, NC_000001.10:g.167427951_167427952del, NC_000001.10:g.167427952del, NC_000001.10:g.167427952dup, NC_000001.10:g.167427951_167427952dup, NC_000001.10:g.167427950_167427952dup, NC_000001.10:g.167427949_167427952dup, NC_000001.10:g.167427948_167427952dup, NC_000001.10:g.167427947_167427952dup, NC_000001.10:g.167427946_167427952dup, NC_000001.10:g.167427945_167427952dup, NC_000001.10:g.167427944_167427952dup, NC_000001.10:g.167427943_167427952dup, NC_000001.10:g.167427942_167427952dup, NC_000001.10:g.167427941_167427952dup, NC_000001.10:g.167427940_167427952dup, NC_000001.10:g.167427939_167427952dup, NC_000001.10:g.167427938_167427952dup, NC_000001.10:g.167427937_167427952dup, NC_000001.10:g.167427936_167427952dup, NC_000001.10:g.167427935_167427952dup, NC_000001.10:g.167427934_167427952dup, NC_000001.10:g.167427933_167427952dup, NC_000001.10:g.167427952_167427953insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167427952_167427953insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007384.1:g.64906_64920del, NG_007384.1:g.64907_64920del, NG_007384.1:g.64908_64920del, NG_007384.1:g.64909_64920del, NG_007384.1:g.64910_64920del, NG_007384.1:g.64911_64920del, NG_007384.1:g.64912_64920del, NG_007384.1:g.64913_64920del, NG_007384.1:g.64914_64920del, NG_007384.1:g.64915_64920del, NG_007384.1:g.64916_64920del, NG_007384.1:g.64917_64920del, NG_007384.1:g.64918_64920del, NG_007384.1:g.64919_64920del, NG_007384.1:g.64920del, NG_007384.1:g.64920dup, NG_007384.1:g.64919_64920dup, NG_007384.1:g.64918_64920dup, NG_007384.1:g.64917_64920dup, NG_007384.1:g.64916_64920dup, NG_007384.1:g.64915_64920dup, NG_007384.1:g.64914_64920dup, NG_007384.1:g.64913_64920dup, NG_007384.1:g.64912_64920dup, NG_007384.1:g.64911_64920dup, NG_007384.1:g.64910_64920dup, NG_007384.1:g.64909_64920dup, NG_007384.1:g.64908_64920dup, NG_007384.1:g.64907_64920dup, NG_007384.1:g.64906_64920dup, NG_007384.1:g.64905_64920dup, NG_007384.1:g.64904_64920dup, NG_007384.1:g.64903_64920dup, NG_007384.1:g.64902_64920dup, NG_007384.1:g.64901_64920dup, NG_007384.1:g.64920_64921insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007384.1:g.64920_64921insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911186099.

rs1491118609 has merged into rs34079142 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:167452421 (GRCh38)
1:167421658 (GRCh37)
Canonical SPDI:: NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:167452411:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.167452421_167452429del, NC_000001.11:g.167452423_167452429del, NC_000001.11:g.167452424_167452429del, NC_000001.11:g.167452425_167452429del, NC_000001.11:g.167452426_167452429del, NC_000001.11:g.167452428_167452429del, NC_000001.11:g.167452429del, NC_000001.11:g.167452429dup, NC_000001.11:g.167452428_167452429dup, NC_000001.11:g.167452427_167452429dup, NC_000001.11:g.167452424_167452429dup, NC_000001.10:g.167421658_167421666del, NC_000001.10:g.167421660_167421666del, NC_000001.10:g.167421661_167421666del, NC_000001.10:g.167421662_167421666del, NC_000001.10:g.167421663_167421666del, NC_000001.10:g.167421665_167421666del, NC_000001.10:g.167421666del, NC_000001.10:g.167421666dup, NC_000001.10:g.167421665_167421666dup, NC_000001.10:g.167421664_167421666dup, NC_000001.10:g.167421661_167421666dup, NG_007384.1:g.71190_71198del, NG_007384.1:g.71192_71198del, NG_007384.1:g.71193_71198del, NG_007384.1:g.71194_71198del, NG_007384.1:g.71195_71198del, NG_007384.1:g.71197_71198del, NG_007384.1:g.71198del, NG_007384.1:g.71198dup, NG_007384.1:g.71197_71198dup, NG_007384.1:g.71196_71198dup, NG_007384.1:g.71193_71198dup

Select item 149110201310.

rs1491102013 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT,TTTT,TTTTCCTTTT [Show Flanks]
Chromosome:: 1:167506245 (GRCh38)
1:167475483 (GRCh37)
Canonical SPDI:: NC_000001.11:167506245::TTT,NC_000001.11:167506245::TTTT,NC_000001.11:167506245::TTTTCCTTTT
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.167506245_167506246insTTT, NC_000001.11:g.167506245_167506246insTTTT, NC_000001.11:g.167506245_167506246insTTTTCCTTTT, NC_000001.10:g.167475482_167475483insTTT, NC_000001.10:g.167475482_167475483insTTTT, NC_000001.10:g.167475482_167475483insTTTTCCTTTT, NG_007384.1:g.17364_17365insAAA, NG_007384.1:g.17364_17365insAAAA, NG_007384.1:g.17364_17365insAAAAGGAAAA

Select item 149102602711.

rs1491026027 has merged into rs60850667 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:167493047 (GRCh38)
1:167462284 (GRCh37)
Canonical SPDI:: NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:167493037:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.167493047_167493060del, NC_000001.11:g.167493048_167493060del, NC_000001.11:g.167493049_167493060del, NC_000001.11:g.167493051_167493060del, NC_000001.11:g.167493052_167493060del, NC_000001.11:g.167493053_167493060del, NC_000001.11:g.167493054_167493060del, NC_000001.11:g.167493055_167493060del, NC_000001.11:g.167493056_167493060del, NC_000001.11:g.167493057_167493060del, NC_000001.11:g.167493058_167493060del, NC_000001.11:g.167493059_167493060del, NC_000001.11:g.167493060del, NC_000001.11:g.167493060dup, NC_000001.11:g.167493059_167493060dup, NC_000001.11:g.167493058_167493060dup, NC_000001.11:g.167493057_167493060dup, NC_000001.11:g.167493056_167493060dup, NC_000001.11:g.167493055_167493060dup, NC_000001.11:g.167493054_167493060dup, NC_000001.11:g.167493053_167493060dup, NC_000001.11:g.167493052_167493060dup, NC_000001.11:g.167493051_167493060dup, NC_000001.11:g.167493050_167493060dup, NC_000001.11:g.167493049_167493060dup, NC_000001.11:g.167493048_167493060dup, NC_000001.11:g.167493047_167493060dup, NC_000001.11:g.167493044_167493060dup, NC_000001.11:g.167493038_167493060dup, NC_000001.11:g.167493060_167493061insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.167493060_167493061insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.167493060_167493061insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.167493060_167493061insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167462284_167462297del, NC_000001.10:g.167462285_167462297del, NC_000001.10:g.167462286_167462297del, NC_000001.10:g.167462288_167462297del, NC_000001.10:g.167462289_167462297del, NC_000001.10:g.167462290_167462297del, NC_000001.10:g.167462291_167462297del, NC_000001.10:g.167462292_167462297del, NC_000001.10:g.167462293_167462297del, NC_000001.10:g.167462294_167462297del, NC_000001.10:g.167462295_167462297del, NC_000001.10:g.167462296_167462297del, NC_000001.10:g.167462297del, NC_000001.10:g.167462297dup, NC_000001.10:g.167462296_167462297dup, NC_000001.10:g.167462295_167462297dup, NC_000001.10:g.167462294_167462297dup, NC_000001.10:g.167462293_167462297dup, NC_000001.10:g.167462292_167462297dup, NC_000001.10:g.167462291_167462297dup, NC_000001.10:g.167462290_167462297dup, NC_000001.10:g.167462289_167462297dup, NC_000001.10:g.167462288_167462297dup, NC_000001.10:g.167462287_167462297dup, NC_000001.10:g.167462286_167462297dup, NC_000001.10:g.167462285_167462297dup, NC_000001.10:g.167462284_167462297dup, NC_000001.10:g.167462281_167462297dup, NC_000001.10:g.167462275_167462297dup, NC_000001.10:g.167462297_167462298insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167462297_167462298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167462297_167462298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.167462297_167462298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007384.1:g.30559_30572del, NG_007384.1:g.30560_30572del, NG_007384.1:g.30561_30572del, NG_007384.1:g.30563_30572del, NG_007384.1:g.30564_30572del, NG_007384.1:g.30565_30572del, NG_007384.1:g.30566_30572del, NG_007384.1:g.30567_30572del, NG_007384.1:g.30568_30572del, NG_007384.1:g.30569_30572del, NG_007384.1:g.30570_30572del, NG_007384.1:g.30571_30572del, NG_007384.1:g.30572del, NG_007384.1:g.30572dup, NG_007384.1:g.30571_30572dup, NG_007384.1:g.30570_30572dup, NG_007384.1:g.30569_30572dup, NG_007384.1:g.30568_30572dup, NG_007384.1:g.30567_30572dup, NG_007384.1:g.30566_30572dup, NG_007384.1:g.30565_30572dup, NG_007384.1:g.30564_30572dup, NG_007384.1:g.30563_30572dup, NG_007384.1:g.30562_30572dup, NG_007384.1:g.30561_30572dup, NG_007384.1:g.30560_30572dup, NG_007384.1:g.30559_30572dup, NG_007384.1:g.30556_30572dup, NG_007384.1:g.30550_30572dup, NG_007384.1:g.30572_30573insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007384.1:g.30572_30573insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007384.1:g.30572_30573insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007384.1:g.30572_30573insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149100808912.

rs1491008089 has merged into rs11385046 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:167490638 (GRCh38)
1:167459875 (GRCh37)
Canonical SPDI:: NC_000001.11:167490630:AAAAAAAAA:AAAAAAA,NC_000001.11:167490630:AAAAAAAAA:AAAAAAAA,NC_000001.11:167490630:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:167490630:AAAAAAAAA:AAAAAAAAAAA
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00722/27 (1000Genomes)
A=0.25382/465 (Korea1K)
A=0.29606/1141 (ALSPAC)
A=0.30448/1129 (TWINSUK)
A=0.39167/235 (NorthernSweden)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000001.11:g.167490638_167490639del, NC_000001.11:g.167490639del, NC_000001.11:g.167490639dup, NC_000001.11:g.167490638_167490639dup, NC_000001.10:g.167459875_167459876del, NC_000001.10:g.167459876del, NC_000001.10:g.167459876dup, NC_000001.10:g.167459875_167459876dup, NG_007384.1:g.32978_32979del, NG_007384.1:g.32979del, NG_007384.1:g.32979dup, NG_007384.1:g.32978_32979dup

Select item 149097507713.

rs1490975077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:167437560 (GRCh38)
1:167406797 (GRCh37)
Canonical SPDI:: NC_000001.11:167437559:C:A,NC_000001.11:167437559:C:T
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.167437560C>A, NC_000001.11:g.167437560C>T, NC_000001.10:g.167406797C>A, NC_000001.10:g.167406797C>T, NG_007384.1:g.86050G>T, NG_007384.1:g.86050G>A

Select item 149097208814.

rs1490972088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167451797 (GRCh38)
1:167421034 (GRCh37)
Canonical SPDI:: NC_000001.11:167451796:C:T
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.167451797C>T, NC_000001.10:g.167421034C>T, NG_007384.1:g.71813G>A

Select item 149091509815.

rs1490915098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:167489077 (GRCh38)
1:167458314 (GRCh37)
Canonical SPDI:: NC_000001.11:167489076:C:T
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.167489077C>T, NC_000001.10:g.167458314C>T, NG_007384.1:g.34533G>A

Select item 149090000716.

rs1490900007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:167490104 (GRCh38)
1:167459341 (GRCh37)
Canonical SPDI:: NC_000001.11:167490103:G:A
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.167490104G>A, NC_000001.10:g.167459341G>A, NG_007384.1:g.33506C>T

Select item 149087803917.

rs1490878039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:167436433 (GRCh38)
1:167405670 (GRCh37)
Canonical SPDI:: NC_000001.11:167436432:A:G
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.167436433A>G, NC_000001.10:g.167405670A>G, NG_007384.1:g.87177T>C

Select item 149085822318.

rs1490858223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:167518524 (GRCh38)
1:167487761 (GRCh37)
Canonical SPDI:: NC_000001.11:167518523:A:G,NC_000001.11:167518523:A:T
Gene:: CD247 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
G=0.002729/5 (Korea1K)
HGVS:: NC_000001.11:g.167518524A>G, NC_000001.11:g.167518524A>T, NC_000001.10:g.167487761A>G, NC_000001.10:g.167487761A>T, NG_007384.1:g.5086T>C, NG_007384.1:g.5086T>A, NM_000734.4:c.-59T>C, NM_000734.4:c.-59T>A, NM_000734.3:c.-59T>C, NM_000734.3:c.-59T>A, NM_198053.3:c.-59T>C, NM_198053.3:c.-59T>A, NM_198053.2:c.-59T>C, NM_198053.2:c.-59T>A, NM_001378515.1:c.-59T>C, NM_001378515.1:c.-59T>A, NM_001378516.1:c.-59T>C, NM_001378516.1:c.-59T>A, XM_011510144.3:c.-180T>C, XM_011510144.3:c.-180T>A, XM_011510144.2:c.-180T>C, XM_011510144.2:c.-180T>A, XM_011510144.1:c.-180T>C, XM_011510144.1:c.-180T>A, XM_011510145.2:c.-180T>C, XM_011510145.2:c.-180T>A, XM_011510145.1:c.-180T>C, XM_011510145.1:c.-180T>A

Select item 149084586419.

rs1490845864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:167504595 (GRCh38)
1:167473832 (GRCh37)
Canonical SPDI:: NC_000001.11:167504594:G:C
Gene:: CD247 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.167504595G>C, NC_000001.10:g.167473832G>C, NG_007384.1:g.19015C>G

Select item 149082114320.

rs1490821143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:167518502 (GRCh38)
1:167487739 (GRCh37)
Canonical SPDI:: NC_000001.11:167518501:G:A,NC_000001.11:167518501:G:C
Gene:: CD247 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.167518502G>A, NC_000001.11:g.167518502G>C, NC_000001.10:g.167487739G>A, NC_000001.10:g.167487739G>C, NG_007384.1:g.5108C>T, NG_007384.1:g.5108C>G, NM_000734.4:c.-37C>T, NM_000734.4:c.-37C>G, NM_000734.3:c.-37C>T, NM_000734.3:c.-37C>G, NM_198053.3:c.-37C>T, NM_198053.3:c.-37C>G, NM_198053.2:c.-37C>T, NM_198053.2:c.-37C>G, NM_001378515.1:c.-37C>T, NM_001378515.1:c.-37C>G, NM_001378516.1:c.-37C>T, NM_001378516.1:c.-37C>G, XM_011510144.3:c.-158C>T, XM_011510144.3:c.-158C>G, XM_011510144.2:c.-158C>T, XM_011510144.2:c.-158C>G, XM_011510144.1:c.-158C>T, XM_011510144.1:c.-158C>G, XM_011510145.2:c.-158C>T, XM_011510145.2:c.-158C>G, XM_011510145.1:c.-158C>T, XM_011510145.1:c.-158C>G

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