SNP Links for Gene (Select 4336) - SNP

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Select item 14915588431.

rs1491558843 has merged into rs750523209 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 3:39509102 (GRCh38)
3:39550593 (GRCh37)
Canonical SPDI:: NC_000003.12:39509090:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000003.12:39509090:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000003.12:39509090:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00167/1 (NorthernSweden)
-=0.00498/9 (Korea1K)
-=0.07187/277 (ALSPAC)
HGVS:: NC_000003.12:g.39509092GT[5], NC_000003.12:g.39509092GT[6], NC_000003.12:g.39509092GT[8], NC_000003.11:g.39550583GT[5], NC_000003.11:g.39550583GT[6], NC_000003.11:g.39550583GT[8]

Select item 14915371842.

rs1491537184 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATGA [Show Flanks]
Chromosome:: 3:39469207 (GRCh38)
3:39510699 (GRCh37)
Canonical SPDI:: NC_000003.12:39469207::ATGA
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATGA=0./0 (ALFA)
HGVS:: NC_000003.12:g.39469207_39469208insATGA, NC_000003.11:g.39510698_39510699insATGA

Select item 14915316023.

rs1491531602 has merged into rs5848517 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:39526781 (GRCh38)
3:39568272 (GRCh37)
Canonical SPDI:: NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:39526773:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MOBP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.002697/10 (TWINSUK)
-=0.004152/16 (ALSPAC)
HGVS:: NC_000003.12:g.39526781_39526793del, NC_000003.12:g.39526783_39526793del, NC_000003.12:g.39526784_39526793del, NC_000003.12:g.39526785_39526793del, NC_000003.12:g.39526786_39526793del, NC_000003.12:g.39526788_39526793del, NC_000003.12:g.39526789_39526793del, NC_000003.12:g.39526790_39526793del, NC_000003.12:g.39526791_39526793del, NC_000003.12:g.39526792_39526793del, NC_000003.12:g.39526793del, NC_000003.12:g.39526793dup, NC_000003.12:g.39526792_39526793dup, NC_000003.12:g.39526791_39526793dup, NC_000003.12:g.39526790_39526793dup, NC_000003.12:g.39526789_39526793dup, NC_000003.12:g.39526788_39526793dup, NC_000003.12:g.39526787_39526793dup, NC_000003.12:g.39526786_39526793dup, NC_000003.12:g.39526779_39526793dup, NC_000003.11:g.39568272_39568284del, NC_000003.11:g.39568274_39568284del, NC_000003.11:g.39568275_39568284del, NC_000003.11:g.39568276_39568284del, NC_000003.11:g.39568277_39568284del, NC_000003.11:g.39568279_39568284del, NC_000003.11:g.39568280_39568284del, NC_000003.11:g.39568281_39568284del, NC_000003.11:g.39568282_39568284del, NC_000003.11:g.39568283_39568284del, NC_000003.11:g.39568284del, NC_000003.11:g.39568284dup, NC_000003.11:g.39568283_39568284dup, NC_000003.11:g.39568282_39568284dup, NC_000003.11:g.39568281_39568284dup, NC_000003.11:g.39568280_39568284dup, NC_000003.11:g.39568279_39568284dup, NC_000003.11:g.39568278_39568284dup, NC_000003.11:g.39568277_39568284dup, NC_000003.11:g.39568270_39568284dup, NR_003090.3:n.3001_3013del, NR_003090.3:n.3003_3013del, NR_003090.3:n.3004_3013del, NR_003090.3:n.3005_3013del, NR_003090.3:n.3006_3013del, NR_003090.3:n.3008_3013del, NR_003090.3:n.3009_3013del, NR_003090.3:n.3010_3013del, NR_003090.3:n.3011_3013del, NR_003090.3:n.3012_3013del, NR_003090.3:n.3013del, NR_003090.3:n.3013dup, NR_003090.3:n.3012_3013dup, NR_003090.3:n.3011_3013dup, NR_003090.3:n.3010_3013dup, NR_003090.3:n.3009_3013dup, NR_003090.3:n.3008_3013dup, NR_003090.3:n.3007_3013dup, NR_003090.3:n.3006_3013dup, NR_003090.3:n.2999_3013dup, NR_003090.2:n.3108_3120del, NR_003090.2:n.3110_3120del, NR_003090.2:n.3111_3120del, NR_003090.2:n.3112_3120del, NR_003090.2:n.3113_3120del, NR_003090.2:n.3115_3120del, NR_003090.2:n.3116_3120del, NR_003090.2:n.3117_3120del, NR_003090.2:n.3118_3120del, NR_003090.2:n.3119_3120del, NR_003090.2:n.3120del, NR_003090.2:n.3120dup, NR_003090.2:n.3119_3120dup, NR_003090.2:n.3118_3120dup, NR_003090.2:n.3117_3120dup, NR_003090.2:n.3116_3120dup, NR_003090.2:n.3115_3120dup, NR_003090.2:n.3114_3120dup, NR_003090.2:n.3113_3120dup, NR_003090.2:n.3106_3120dup, NR_103505.2:n.3381_3393del, NR_103505.2:n.3383_3393del, NR_103505.2:n.3384_3393del, NR_103505.2:n.3385_3393del, NR_103505.2:n.3386_3393del, NR_103505.2:n.3388_3393del, NR_103505.2:n.3389_3393del, NR_103505.2:n.3390_3393del, NR_103505.2:n.3391_3393del, NR_103505.2:n.3392_3393del, NR_103505.2:n.3393del, NR_103505.2:n.3393dup, NR_103505.2:n.3392_3393dup, NR_103505.2:n.3391_3393dup, NR_103505.2:n.3390_3393dup, NR_103505.2:n.3389_3393dup, NR_103505.2:n.3388_3393dup, NR_103505.2:n.3387_3393dup, NR_103505.2:n.3386_3393dup, NR_103505.2:n.3379_3393dup, NR_103505.1:n.3488_3500del, NR_103505.1:n.3490_3500del, NR_103505.1:n.3491_3500del, NR_103505.1:n.3492_3500del, NR_103505.1:n.3493_3500del, NR_103505.1:n.3495_3500del, NR_103505.1:n.3496_3500del, NR_103505.1:n.3497_3500del, NR_103505.1:n.3498_3500del, NR_103505.1:n.3499_3500del, NR_103505.1:n.3500del, NR_103505.1:n.3500dup, NR_103505.1:n.3499_3500dup, NR_103505.1:n.3498_3500dup, NR_103505.1:n.3497_3500dup, NR_103505.1:n.3496_3500dup, NR_103505.1:n.3495_3500dup, NR_103505.1:n.3494_3500dup, NR_103505.1:n.3493_3500dup, NR_103505.1:n.3486_3500dup, NR_103504.2:n.3343_3355del, NR_103504.2:n.3345_3355del, NR_103504.2:n.3346_3355del, NR_103504.2:n.3347_3355del, NR_103504.2:n.3348_3355del, NR_103504.2:n.3350_3355del, NR_103504.2:n.3351_3355del, NR_103504.2:n.3352_3355del, NR_103504.2:n.3353_3355del, NR_103504.2:n.3354_3355del, NR_103504.2:n.3355del, NR_103504.2:n.3355dup, NR_103504.2:n.3354_3355dup, NR_103504.2:n.3353_3355dup, NR_103504.2:n.3352_3355dup, NR_103504.2:n.3351_3355dup, NR_103504.2:n.3350_3355dup, NR_103504.2:n.3349_3355dup, NR_103504.2:n.3348_3355dup, NR_103504.2:n.3341_3355dup, NR_103504.1:n.3450_3462del, NR_103504.1:n.3452_3462del, NR_103504.1:n.3453_3462del, NR_103504.1:n.3454_3462del, NR_103504.1:n.3455_3462del, NR_103504.1:n.3457_3462del, NR_103504.1:n.3458_3462del, NR_103504.1:n.3459_3462del, NR_103504.1:n.3460_3462del, NR_103504.1:n.3461_3462del, NR_103504.1:n.3462del, NR_103504.1:n.3462dup, NR_103504.1:n.3461_3462dup, NR_103504.1:n.3460_3462dup, NR_103504.1:n.3459_3462dup, NR_103504.1:n.3458_3462dup, NR_103504.1:n.3457_3462dup, NR_103504.1:n.3456_3462dup, NR_103504.1:n.3455_3462dup, NR_103504.1:n.3448_3462dup

Select item 14915111104.

rs1491511110 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:39468960 (GRCh38)
3:39510452 (GRCh37)
Canonical SPDI:: NC_000003.12:39468960::C
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00927/110 (ALFA)
HGVS:: NC_000003.12:g.39468960_39468961insC, NC_000003.11:g.39510451_39510452insC

Select item 14914970995.

rs1491497099 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:39469206 (GRCh38)
3:39510697 (GRCh37)
Canonical SPDI:: NC_000003.12:39469205:AT:
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00026/14 (GnomAD)
HGVS:: NC_000003.12:g.39469206_39469207del, NC_000003.11:g.39510697_39510698del

Select item 14914728246.

rs1491472824 has merged into rs59524140 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:39480047 (GRCh38)
3:39521538 (GRCh37)
Canonical SPDI:: NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAA,NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:39480040:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.19382/747 (ALSPAC)
-=0.19498/723 (TWINSUK)
-=0.3/12 (GENOME_DK)
-=0.34081/1489 (1000Genomes)
HGVS:: NC_000003.12:g.39480047_39480053del, NC_000003.12:g.39480050_39480053del, NC_000003.12:g.39480051_39480053del, NC_000003.12:g.39480052_39480053del, NC_000003.12:g.39480053del, NC_000003.12:g.39480053dup, NC_000003.12:g.39480052_39480053dup, NC_000003.12:g.39480046_39480053dup, NC_000003.11:g.39521538_39521544del, NC_000003.11:g.39521541_39521544del, NC_000003.11:g.39521542_39521544del, NC_000003.11:g.39521543_39521544del, NC_000003.11:g.39521544del, NC_000003.11:g.39521544dup, NC_000003.11:g.39521543_39521544dup, NC_000003.11:g.39521537_39521544dup, NM_182935.4:c.-81_-75del, NM_182935.4:c.-78_-75del, NM_182935.4:c.-77_-75del, NM_182935.4:c.-76_-75del, NM_182935.4:c.-75del, NM_182935.4:c.-75dup, NM_182935.4:c.-76_-75dup, NM_182935.4:c.-82_-75dup, NM_182935.3:c.-81_-75del, NM_182935.3:c.-78_-75del, NM_182935.3:c.-77_-75del, NM_182935.3:c.-76_-75del, NM_182935.3:c.-75del, NM_182935.3:c.-75dup, NM_182935.3:c.-76_-75dup, NM_182935.3:c.-82_-75dup, NR_003090.3:n.69_75del, NR_003090.3:n.72_75del, NR_003090.3:n.73_75del, NR_003090.3:n.74_75del, NR_003090.3:n.75del, NR_003090.3:n.75dup, NR_003090.3:n.74_75dup, NR_003090.3:n.68_75dup, NR_003090.2:n.176_182del, NR_003090.2:n.179_182del, NR_003090.2:n.180_182del, NR_003090.2:n.181_182del, NR_003090.2:n.182del, NR_003090.2:n.182dup, NR_003090.2:n.181_182dup, NR_003090.2:n.175_182dup, NR_103505.2:n.69_75del, NR_103505.2:n.72_75del, NR_103505.2:n.73_75del, NR_103505.2:n.74_75del, NR_103505.2:n.75del, NR_103505.2:n.75dup, NR_103505.2:n.74_75dup, NR_103505.2:n.68_75dup, NR_103505.1:n.176_182del, NR_103505.1:n.179_182del, NR_103505.1:n.180_182del, NR_103505.1:n.181_182del, NR_103505.1:n.182del, NR_103505.1:n.182dup, NR_103505.1:n.181_182dup, NR_103505.1:n.175_182dup, NR_103504.2:n.69_75del, NR_103504.2:n.72_75del, NR_103504.2:n.73_75del, NR_103504.2:n.74_75del, NR_103504.2:n.75del, NR_103504.2:n.75dup, NR_103504.2:n.74_75dup, NR_103504.2:n.68_75dup, NR_103504.1:n.176_182del, NR_103504.1:n.179_182del, NR_103504.1:n.180_182del, NR_103504.1:n.181_182del, NR_103504.1:n.182del, NR_103504.1:n.182dup, NR_103504.1:n.181_182dup, NR_103504.1:n.175_182dup, NM_001278322.2:c.-81_-75del, NM_001278322.2:c.-78_-75del, NM_001278322.2:c.-77_-75del, NM_001278322.2:c.-76_-75del, NM_001278322.2:c.-75del, NM_001278322.2:c.-75dup, NM_001278322.2:c.-76_-75dup, NM_001278322.2:c.-82_-75dup, NM_001278322.1:c.-81_-75del, NM_001278322.1:c.-78_-75del, NM_001278322.1:c.-77_-75del, NM_001278322.1:c.-76_-75del, NM_001278322.1:c.-75del, NM_001278322.1:c.-75dup, NM_001278322.1:c.-76_-75dup, NM_001278322.1:c.-82_-75dup, NR_103506.2:n.69_75del, NR_103506.2:n.72_75del, NR_103506.2:n.73_75del, NR_103506.2:n.74_75del, NR_103506.2:n.75del, NR_103506.2:n.75dup, NR_103506.2:n.74_75dup, NR_103506.2:n.68_75dup, NR_103506.1:n.176_182del, NR_103506.1:n.179_182del, NR_103506.1:n.180_182del, NR_103506.1:n.181_182del, NR_103506.1:n.182del, NR_103506.1:n.182dup, NR_103506.1:n.181_182dup, NR_103506.1:n.175_182dup, NM_001393704.1:c.-81_-75del, NM_001393704.1:c.-78_-75del, NM_001393704.1:c.-77_-75del, NM_001393704.1:c.-76_-75del, NM_001393704.1:c.-75del, NM_001393704.1:c.-75dup, NM_001393704.1:c.-76_-75dup, NM_001393704.1:c.-82_-75dup

Select item 14914227217.

rs1491422721 has merged into rs1159531717 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 3:39469113 (GRCh38)
3:39510604 (GRCh37)
Canonical SPDI:: NC_000003.12:39469108:TATATATA:TATA,NC_000003.12:39469108:TATATATA:TATATA
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
-=0.00293/48 (TOMMO)
HGVS:: NC_000003.12:g.39469109TA[2], NC_000003.12:g.39469109TA[3], NC_000003.11:g.39510600TA[2], NC_000003.11:g.39510600TA[3]

Select item 14914141288.

rs1491414128 has merged into rs5848509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 3:39503567 (GRCh38)
3:39545058 (GRCh37)
Canonical SPDI:: NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.264/1322 (1000Genomes)
HGVS:: NC_000003.12:g.39503567_39503568del, NC_000003.12:g.39503568del, NC_000003.12:g.39503568dup, NC_000003.12:g.39503567_39503568dup, NC_000003.12:g.39503566_39503568dup, NC_000003.12:g.39503565_39503568dup, NC_000003.12:g.39503564_39503568dup, NC_000003.11:g.39545058_39545059del, NC_000003.11:g.39545059del, NC_000003.11:g.39545059dup, NC_000003.11:g.39545058_39545059dup, NC_000003.11:g.39545057_39545059dup, NC_000003.11:g.39545056_39545059dup, NC_000003.11:g.39545055_39545059dup

Select item 14914122399.

rs1491412239 [Homo sapiens]

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

Select item 149140133010.

rs1491401330 has merged into rs72231224 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTATATGTATAGATATATATACATATGTGTGTGT,GTGTGT [Show Flanks]
Chromosome:: 3:39469292 (GRCh38)
3:39510783 (GRCh37)
Canonical SPDI:: NC_000003.12:39469286:TGTGTGT:TGTGT,NC_000003.12:39469286:TGTGTGT:TGTGTGTGT,NC_000003.12:39469286:TGTGTGT:TGTGTGTGTATATGTATAGATATATATACATATGTGTGTGT,NC_000003.12:39469286:TGTGTGT:TGTGTGTGTGT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
TGTG=0.000011/3 (TOPMED)
TG=0.065421/14 (Vietnamese)
TG=0.097491/171 (Korea1K)
TG=0.11821/1923 (TOMMO)
TG=0.272764/1366 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000003.12:g.39469288GT[2], NC_000003.12:g.39469288GT[4], NC_000003.12:g.39469287_39469293TG[4]TA[2]TGTATAGATATATATACATATGTGTGTGT[1], NC_000003.12:g.39469288GT[5], NC_000003.11:g.39510779GT[2], NC_000003.11:g.39510779GT[4], NC_000003.11:g.39510778_39510784TG[4]TA[2]TGTATAGATATATATACATATGTGTGTGT[1], NC_000003.11:g.39510779GT[5]

Select item 149138612811.

rs1491386128 has merged into rs369185818 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:39469180 (GRCh38)
3:39510671 (GRCh37)
Canonical SPDI:: NC_000003.12:39469178:TGTGTGTGTGTGT:T,NC_000003.12:39469178:TGTGTGTGTGTGT:TGTGTGT,NC_000003.12:39469178:TGTGTGTGTGTGT:TGTGTGTGT,NC_000003.12:39469178:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000003.12:39469178:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000003.12:g.39469180_39469191del, NC_000003.12:g.39469180GT[3], NC_000003.12:g.39469180GT[4], NC_000003.12:g.39469180GT[5], NC_000003.12:g.39469180GT[7], NC_000003.11:g.39510671_39510682del, NC_000003.11:g.39510671GT[3], NC_000003.11:g.39510671GT[4], NC_000003.11:g.39510671GT[5], NC_000003.11:g.39510671GT[7]

Select item 149138571512.

rs1491385715 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:39468760 (GRCh38)
3:39510251 (GRCh37)
Canonical SPDI:: NC_000003.12:39468759:AT:
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000177/3 (TOMMO)
-=0.000546/1 (Korea1K)
-=0.00178/212 (GnomAD)
HGVS:: NC_000003.12:g.39468760_39468761del, NC_000003.11:g.39510251_39510252del

Select item 149138040313.

rs1491380403 has merged into rs5848509 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 3:39503567 (GRCh38)
3:39545058 (GRCh37)
Canonical SPDI:: NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:39503553:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.264/1322 (1000Genomes)
HGVS:: NC_000003.12:g.39503567_39503568del, NC_000003.12:g.39503568del, NC_000003.12:g.39503568dup, NC_000003.12:g.39503567_39503568dup, NC_000003.12:g.39503566_39503568dup, NC_000003.12:g.39503565_39503568dup, NC_000003.12:g.39503564_39503568dup, NC_000003.11:g.39545058_39545059del, NC_000003.11:g.39545059del, NC_000003.11:g.39545059dup, NC_000003.11:g.39545058_39545059dup, NC_000003.11:g.39545057_39545059dup, NC_000003.11:g.39545056_39545059dup, NC_000003.11:g.39545055_39545059dup

Select item 149138015414.

rs1491380154 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:39468708 (GRCh38)
3:39510199 (GRCh37)
Canonical SPDI:: NC_000003.12:39468705:ATAT:AT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000084/1 (ALFA)
-=0.000354/37 (GnomAD)
HGVS:: NC_000003.12:g.39468706AT[1], NC_000003.11:g.39510197AT[1]

Select item 149137162715.

rs1491371627 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAC,ATACATATATAC,ATATACATATATAC [Show Flanks]
Chromosome:: 3:39469155 (GRCh38)
3:39510647 (GRCh37)
Canonical SPDI:: NC_000003.12:39469155::ATAC,NC_000003.12:39469155::ATACATATATAC,NC_000003.12:39469155::ATATACATATATAC
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.39469155_39469156insATAC, NC_000003.12:g.39469155_39469156insATACATATATAC, NC_000003.12:g.39469155_39469156insATATACATATATAC, NC_000003.11:g.39510646_39510647insATAC, NC_000003.11:g.39510646_39510647insATACATATATAC, NC_000003.11:g.39510646_39510647insATATACATATATAC

Select item 149136560516.

rs1491365605 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:39469018 (GRCh38)
3:39510509 (GRCh37)
Canonical SPDI:: NC_000003.12:39469015:ATAT:AT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.00007/1 (TOMMO)
-=0.0001/5 (GnomAD)
HGVS:: NC_000003.12:g.39469016AT[1], NC_000003.11:g.39510507AT[1]

Select item 149135440317.

rs1491354403 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,CG [Show Flanks]
Chromosome:: 3:39468937 (GRCh38)
3:39510429 (GRCh37)
Canonical SPDI:: NC_000003.12:39468937:G:GAG,NC_000003.12:39468937:G:GCG
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GA=0.00017/11 (GnomAD)
HGVS:: NC_000003.12:g.39468938_39468939insAG, NC_000003.12:g.39468938_39468939insCG, NC_000003.11:g.39510429_39510430insAG, NC_000003.11:g.39510429_39510430insCG

Select item 149135073218.

rs1491350732 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:39503554 (GRCh38)
3:39545046 (GRCh37)
Canonical SPDI:: NC_000003.12:39503554::C
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00157/3 (GnomAD)
HGVS:: NC_000003.12:g.39503554_39503555insC, NC_000003.11:g.39545045_39545046insC

Select item 149132841019.

rs1491328410 has merged into rs1553616164 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 3:39468940 (GRCh38)
3:39510431 (GRCh37)
Canonical SPDI:: NC_000003.12:39468936:TGTGTGT:TGT,NC_000003.12:39468936:TGTGTGT:TGTGT,NC_000003.12:39468936:TGTGTGT:TGTGTGTGT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TG=0.00259/10 (ALSPAC)
TG=0.00324/12 (TWINSUK)
HGVS:: NC_000003.12:g.39468938GT[1], NC_000003.12:g.39468938GT[2], NC_000003.12:g.39468938GT[4], NC_000003.11:g.39510429GT[1], NC_000003.11:g.39510429GT[2], NC_000003.11:g.39510429GT[4]

Select item 149130116320.

rs1491301163 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGTGTGTATATACATATATACGT [Show Flanks]
Chromosome:: 3:39468706 (GRCh38)
3:39510198 (GRCh37)
Canonical SPDI:: NC_000003.12:39468706:T:TGT,NC_000003.12:39468706:T:TGTGTGTGTATATACATATATACGT
Gene:: MOBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTATATACATATATACGT=0.000062/1 (ALFA)
TGTGTGTGTATATACATATATACG=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.39468707_39468708insGT, NC_000003.12:g.39468707TG[4]TA[3]CATATATACGT[1], NC_000003.11:g.39510198_39510199insGT, NC_000003.11:g.39510198TG[4]TA[3]CATATATACGT[1]

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