SNP Links for Gene (Select 100499483) - SNP

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Select item 14914681711.

rs1491468171 has merged into rs34372293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:97330078 (GRCh38)
9:100092360 (GRCh37)
Canonical SPDI:: NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97330066:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.97330078_97330089del, NC_000009.12:g.97330079_97330089del, NC_000009.12:g.97330080_97330089del, NC_000009.12:g.97330083_97330089del, NC_000009.12:g.97330084_97330089del, NC_000009.12:g.97330085_97330089del, NC_000009.12:g.97330086_97330089del, NC_000009.12:g.97330087_97330089del, NC_000009.12:g.97330088_97330089del, NC_000009.12:g.97330089del, NC_000009.12:g.97330089dup, NC_000009.12:g.97330088_97330089dup, NC_000009.12:g.97330087_97330089dup, NC_000009.12:g.97330086_97330089dup, NC_000009.12:g.97330085_97330089dup, NC_000009.12:g.97330084_97330089dup, NC_000009.12:g.97330078_97330089dup, NC_000009.11:g.100092360_100092371del, NC_000009.11:g.100092361_100092371del, NC_000009.11:g.100092362_100092371del, NC_000009.11:g.100092365_100092371del, NC_000009.11:g.100092366_100092371del, NC_000009.11:g.100092367_100092371del, NC_000009.11:g.100092368_100092371del, NC_000009.11:g.100092369_100092371del, NC_000009.11:g.100092370_100092371del, NC_000009.11:g.100092371del, NC_000009.11:g.100092371dup, NC_000009.11:g.100092370_100092371dup, NC_000009.11:g.100092369_100092371dup, NC_000009.11:g.100092368_100092371dup, NC_000009.11:g.100092367_100092371dup, NC_000009.11:g.100092366_100092371dup, NC_000009.11:g.100092360_100092371dup, NG_052792.1:g.27775_27786del, NG_052792.1:g.27776_27786del, NG_052792.1:g.27777_27786del, NG_052792.1:g.27780_27786del, NG_052792.1:g.27781_27786del, NG_052792.1:g.27782_27786del, NG_052792.1:g.27783_27786del, NG_052792.1:g.27784_27786del, NG_052792.1:g.27785_27786del, NG_052792.1:g.27786del, NG_052792.1:g.27786dup, NG_052792.1:g.27785_27786dup, NG_052792.1:g.27784_27786dup, NG_052792.1:g.27783_27786dup, NG_052792.1:g.27782_27786dup, NG_052792.1:g.27781_27786dup, NG_052792.1:g.27775_27786dup

Select item 14913869602.

rs1491386960 has merged into rs373215367 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:97333516 (GRCh38)
9:100095798 (GRCh37)
Canonical SPDI:: NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97333503:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TT=0.275/11 (GENOME_DK)
HGVS:: NC_000009.12:g.97333516_97333529del, NC_000009.12:g.97333517_97333529del, NC_000009.12:g.97333518_97333529del, NC_000009.12:g.97333519_97333529del, NC_000009.12:g.97333520_97333529del, NC_000009.12:g.97333521_97333529del, NC_000009.12:g.97333522_97333529del, NC_000009.12:g.97333523_97333529del, NC_000009.12:g.97333524_97333529del, NC_000009.12:g.97333526_97333529del, NC_000009.12:g.97333527_97333529del, NC_000009.12:g.97333528_97333529del, NC_000009.12:g.97333529del, NC_000009.12:g.97333529dup, NC_000009.12:g.97333528_97333529dup, NC_000009.12:g.97333527_97333529dup, NC_000009.12:g.97333526_97333529dup, NC_000009.12:g.97333524_97333529dup, NC_000009.12:g.97333521_97333529dup, NC_000009.11:g.100095798_100095811del, NC_000009.11:g.100095799_100095811del, NC_000009.11:g.100095800_100095811del, NC_000009.11:g.100095801_100095811del, NC_000009.11:g.100095802_100095811del, NC_000009.11:g.100095803_100095811del, NC_000009.11:g.100095804_100095811del, NC_000009.11:g.100095805_100095811del, NC_000009.11:g.100095806_100095811del, NC_000009.11:g.100095808_100095811del, NC_000009.11:g.100095809_100095811del, NC_000009.11:g.100095810_100095811del, NC_000009.11:g.100095811del, NC_000009.11:g.100095811dup, NC_000009.11:g.100095810_100095811dup, NC_000009.11:g.100095809_100095811dup, NC_000009.11:g.100095808_100095811dup, NC_000009.11:g.100095806_100095811dup, NC_000009.11:g.100095803_100095811dup, NG_052792.1:g.31213_31226del, NG_052792.1:g.31214_31226del, NG_052792.1:g.31215_31226del, NG_052792.1:g.31216_31226del, NG_052792.1:g.31217_31226del, NG_052792.1:g.31218_31226del, NG_052792.1:g.31219_31226del, NG_052792.1:g.31220_31226del, NG_052792.1:g.31221_31226del, NG_052792.1:g.31223_31226del, NG_052792.1:g.31224_31226del, NG_052792.1:g.31225_31226del, NG_052792.1:g.31226del, NG_052792.1:g.31226dup, NG_052792.1:g.31225_31226dup, NG_052792.1:g.31224_31226dup, NG_052792.1:g.31223_31226dup, NG_052792.1:g.31221_31226dup, NG_052792.1:g.31218_31226dup

Select item 14913567673.

rs1491356767 has merged into rs34335877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 9:97343637 (GRCh38)
9:100105919 (GRCh37)
Canonical SPDI:: NC_000009.12:97343627:AAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:97343627:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:97343627:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:97343627:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:97343627:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:97343627:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:97343627:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.1/4 (GENOME_DK)
HGVS:: NC_000009.12:g.97343637_97343640del, NC_000009.12:g.97343639_97343640del, NC_000009.12:g.97343640del, NC_000009.12:g.97343640dup, NC_000009.12:g.97343639_97343640dup, NC_000009.12:g.97343638_97343640dup, NC_000009.12:g.97343636_97343640dup, NC_000009.11:g.100105919_100105922del, NC_000009.11:g.100105921_100105922del, NC_000009.11:g.100105922del, NC_000009.11:g.100105922dup, NC_000009.11:g.100105921_100105922dup, NC_000009.11:g.100105920_100105922dup, NC_000009.11:g.100105918_100105922dup, NG_052792.1:g.41334_41337del, NG_052792.1:g.41336_41337del, NG_052792.1:g.41337del, NG_052792.1:g.41337dup, NG_052792.1:g.41336_41337dup, NG_052792.1:g.41335_41337dup, NG_052792.1:g.41333_41337dup

Select item 14913190644.

rs1491319064 [Homo sapiens]

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

Select item 14912717525.

rs1491271752 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 9:97325315 (GRCh38)
9:100087597 (GRCh37)
Canonical SPDI:: NC_000009.12:97325313:CAC:C
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.97325315_97325316del, NC_000009.11:g.100087597_100087598del, NG_052792.1:g.23012_23013del

Select item 14912492896.

rs1491249289 has merged into rs67153822 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:97370962 (GRCh38)
9:100133244 (GRCh37)
Canonical SPDI:: NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97370950:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000009.12:g.97370962_97370974del, NC_000009.12:g.97370963_97370974del, NC_000009.12:g.97370964_97370974del, NC_000009.12:g.97370965_97370974del, NC_000009.12:g.97370966_97370974del, NC_000009.12:g.97370967_97370974del, NC_000009.12:g.97370968_97370974del, NC_000009.12:g.97370969_97370974del, NC_000009.12:g.97370970_97370974del, NC_000009.12:g.97370971_97370974del, NC_000009.12:g.97370972_97370974del, NC_000009.12:g.97370973_97370974del, NC_000009.12:g.97370974del, NC_000009.12:g.97370974dup, NC_000009.12:g.97370973_97370974dup, NC_000009.12:g.97370972_97370974dup, NC_000009.12:g.97370971_97370974dup, NC_000009.12:g.97370970_97370974dup, NC_000009.12:g.97370969_97370974dup, NC_000009.12:g.97370968_97370974dup, NC_000009.12:g.97370967_97370974dup, NC_000009.12:g.97370966_97370974dup, NC_000009.12:g.97370965_97370974dup, NC_000009.12:g.97370964_97370974dup, NC_000009.12:g.97370961_97370974dup, NC_000009.11:g.100133244_100133256del, NC_000009.11:g.100133245_100133256del, NC_000009.11:g.100133246_100133256del, NC_000009.11:g.100133247_100133256del, NC_000009.11:g.100133248_100133256del, NC_000009.11:g.100133249_100133256del, NC_000009.11:g.100133250_100133256del, NC_000009.11:g.100133251_100133256del, NC_000009.11:g.100133252_100133256del, NC_000009.11:g.100133253_100133256del, NC_000009.11:g.100133254_100133256del, NC_000009.11:g.100133255_100133256del, NC_000009.11:g.100133256del, NC_000009.11:g.100133256dup, NC_000009.11:g.100133255_100133256dup, NC_000009.11:g.100133254_100133256dup, NC_000009.11:g.100133253_100133256dup, NC_000009.11:g.100133252_100133256dup, NC_000009.11:g.100133251_100133256dup, NC_000009.11:g.100133250_100133256dup, NC_000009.11:g.100133249_100133256dup, NC_000009.11:g.100133248_100133256dup, NC_000009.11:g.100133247_100133256dup, NC_000009.11:g.100133246_100133256dup, NC_000009.11:g.100133243_100133256dup, NG_052792.1:g.68659_68671del, NG_052792.1:g.68660_68671del, NG_052792.1:g.68661_68671del, NG_052792.1:g.68662_68671del, NG_052792.1:g.68663_68671del, NG_052792.1:g.68664_68671del, NG_052792.1:g.68665_68671del, NG_052792.1:g.68666_68671del, NG_052792.1:g.68667_68671del, NG_052792.1:g.68668_68671del, NG_052792.1:g.68669_68671del, NG_052792.1:g.68670_68671del, NG_052792.1:g.68671del, NG_052792.1:g.68671dup, NG_052792.1:g.68670_68671dup, NG_052792.1:g.68669_68671dup, NG_052792.1:g.68668_68671dup, NG_052792.1:g.68667_68671dup, NG_052792.1:g.68666_68671dup, NG_052792.1:g.68665_68671dup, NG_052792.1:g.68664_68671dup, NG_052792.1:g.68663_68671dup, NG_052792.1:g.68662_68671dup, NG_052792.1:g.68661_68671dup, NG_052792.1:g.68658_68671dup

Select item 14911608037.

rs1491160803 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:97325314 (GRCh38)
9:100087597 (GRCh37)
Canonical SPDI:: NC_000009.12:97325314:A:AA
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.97325315dup, NC_000009.11:g.100087597dup, NG_052792.1:g.23012dup

Select item 14911387218.

rs1491138721 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 9:97333504 (GRCh38)
9:100095787 (GRCh37)
Canonical SPDI:: NC_000009.12:97333504:TTTT:TTTTGTTTT
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TTTTG=0.007/4 (NorthernSweden)
HGVS:: NC_000009.12:g.97333505_97333508T[4]GTTTT[1], NC_000009.11:g.100095787_100095790T[4]GTTTT[1], NG_052792.1:g.31202_31205T[4]GTTTT[1]

Select item 14910177849.

rs1491017784 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:97367492 (GRCh38)
9:100129774 (GRCh37)
Canonical SPDI:: NC_000009.12:97367489:AGAG:AG
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000084/1 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.97367490AG[1], NC_000009.11:g.100129772AG[1], NG_052792.1:g.65187AG[1]

Select item 149092823310.

rs1490928233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:97362221 (GRCh38)
9:100124503 (GRCh37)
Canonical SPDI:: NC_000009.12:97362220:C:A
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.97362221C>A, NC_000009.11:g.100124503C>A, NG_052792.1:g.59918C>A, NM_020893.6:c.3682C>A, NM_020893.5:c.3814C>A, NM_020893.4:c.3814C>A, NM_020893.3:c.3814C>A, NM_020893.2:c.3814C>A, NR_036528.1:n.5237C>A, NR_036527.1:n.4733C>A, NR_036529.1:n.4293C>A, NP_065944.3:p.His1228Asn

Select item 149091437411.

rs1490914374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:97326945 (GRCh38)
9:100089227 (GRCh37)
Canonical SPDI:: NC_000009.12:97326944:G:C,NC_000009.12:97326944:G:T
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.97326945G>C, NC_000009.12:g.97326945G>T, NC_000009.11:g.100089227G>C, NC_000009.11:g.100089227G>T, NG_052792.1:g.24642G>C, NG_052792.1:g.24642G>T

Select item 149088925012.

rs1490889250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97325762 (GRCh38)
9:100088044 (GRCh37)
Canonical SPDI:: NC_000009.12:97325761:G:A
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.97325762G>A, NC_000009.11:g.100088044G>A, NG_052792.1:g.23459G>A

Select item 149082450413.

rs1490824504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97342216 (GRCh38)
9:100104498 (GRCh37)
Canonical SPDI:: NC_000009.12:97342215:G:A
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.97342216G>A, NC_000009.11:g.100104498G>A, NG_052792.1:g.39913G>A

Select item 149080955514.

rs1490809555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:97342323 (GRCh38)
9:100104605 (GRCh37)
Canonical SPDI:: NC_000009.12:97342322:T:G
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.97342323T>G, NC_000009.11:g.100104605T>G, NG_052792.1:g.40020T>G

Select item 149078085915.

rs1490780859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:97358628 (GRCh38)
9:100120910 (GRCh37)
Canonical SPDI:: NC_000009.12:97358627:A:G
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.97358628A>G, NC_000009.11:g.100120910A>G, NG_052792.1:g.56325A>G

Select item 149060373516.

rs1490603735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:97334217 (GRCh38)
9:100096499 (GRCh37)
Canonical SPDI:: NC_000009.12:97334216:C:G
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.97334217C>G, NC_000009.11:g.100096499C>G, NG_052792.1:g.31914C>G

Select item 149058080617.

rs1490580806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97350679 (GRCh38)
9:100112961 (GRCh37)
Canonical SPDI:: NC_000009.12:97350678:C:T
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.97350679C>T, NC_000009.11:g.100112961C>T, NG_052792.1:g.48376C>T

Select item 149056631518.

rs1490566315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97306599 (GRCh38)
9:100068881 (GRCh37)
Canonical SPDI:: NC_000009.12:97306598:C:T
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.97306599C>T, NC_000009.11:g.100068881C>T, NG_052792.1:g.4296C>T

Select item 149055510819.

rs1490555108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97349595 (GRCh38)
9:100111877 (GRCh37)
Canonical SPDI:: NC_000009.12:97349594:G:A
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.97349595G>A, NC_000009.11:g.100111877G>A, NG_052792.1:g.47292G>A

Select item 149052271120.

rs1490522711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:97330391 (GRCh38)
9:100092673 (GRCh37)
Canonical SPDI:: NC_000009.12:97330390:T:C
Gene:: SUGT1P4-STRA6LP-CCDC180 (Varview), CCDC180 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.97330391T>C, NC_000009.11:g.100092673T>C, NG_052792.1:g.28088T>C, NM_020893.6:c.1898T>C, NM_020893.5:c.2030T>C, NM_020893.4:c.2030T>C, NM_020893.3:c.2030T>C, NM_020893.2:c.2030T>C, NM_001348010.4:c.1889T>C, NM_001348010.3:c.2021T>C, NM_001348010.2:c.2021T>C, NM_001348010.1:c.2021T>C, NR_036528.1:n.3453T>C, NR_036527.1:n.3453T>C, NR_036529.1:n.3013T>C, NP_065944.3:p.Met633Thr, NP_001334939.2:p.Met630Thr

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