SNP Links for Gene (Select 6580) - SNP

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Select item 14915785341.

rs1491578534 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:160148930 (GRCh38)
6:160569963 (GRCh37)
Canonical SPDI:: NC_000006.12:160148930:AAAAAAAAAAAAA:AAAAAAAAAAAAAGAAAAAAAAAAAAA
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.160148931_160148943A[13]GAAAAAAAAAAAAA[1], NC_000006.11:g.160569963_160569975A[13]GAAAAAAAAAAAAA[1]

Select item 14915386672.

rs1491538667 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:160145449 (GRCh38)
6:160566481 (GRCh37)
Canonical SPDI:: NC_000006.12:160145447:ATA:A
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160145449_160145450del, NC_000006.11:g.160566481_160566482del

Select item 14914778773.

rs1491477877 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:160140320 (GRCh38)
6:160561352 (GRCh37)
Canonical SPDI:: NC_000006.12:160140319:GC:
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00033/5 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.160140320_160140321del, NC_000006.11:g.160561352_160561353del

Select item 14914558724.

rs1491455872 has merged into rs767121095 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTATCT,CTCT [Show Flanks]
Chromosome:: 6:160152650 (GRCh38)
6:160573682 (GRCh37)
Canonical SPDI:: NC_000006.12:160152648:TCT:T,NC_000006.12:160152648:TCT:TCTATCT,NC_000006.12:160152648:TCT:TCTCT
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
TCTA=0.02886/107 (TWINSUK)
TCTA=0.03114/120 (ALSPAC)
-=0.07723/1163 (TOMMO)
-=0.125/5 (GENOME_DK)
-=0.26824/11618 (GnomAD)
HGVS:: NC_000006.12:g.160152650_160152651del, NC_000006.12:g.160152651_160152652insATCT, NC_000006.12:g.160152650_160152651dup, NC_000006.11:g.160573682_160573683del, NC_000006.11:g.160573683_160573684insATCT, NC_000006.11:g.160573682_160573683dup

Select item 14913859995.

rs1491385999 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:160152652 (GRCh38)
6:160573684 (GRCh37)
Canonical SPDI:: NC_000006.12:160152650:TTT:T
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00012/4 (GnomAD)
HGVS:: NC_000006.12:g.160152652_160152653del, NC_000006.11:g.160573684_160573685del

Select item 14913641206.

rs1491364120 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTTCTTTCTT [Show Flanks]
Chromosome:: 6:160152693 (GRCh38)
6:160573726 (GRCh37)
Canonical SPDI:: NC_000006.12:160152693:CTTTCTTTCTT:CTTTCTTTCTTCCTTTCTTTCTT
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CTTTCTTTCTTC=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.160152694_160152704CTTT[2]CTTCCTTTCTTTCTT[1], NC_000006.11:g.160573726_160573736CTTT[2]CTTCCTTTCTTTCTT[1]

Select item 14913640677.

rs1491364067 has merged into rs11287759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:160159412 (GRCh38)
6:160580444 (GRCh37)
Canonical SPDI:: NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:160159398:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0477/184 (ALSPAC)
-=0.2584/1294 (1000Genomes)
HGVS:: NC_000006.12:g.160159412_160159424del, NC_000006.12:g.160159413_160159424del, NC_000006.12:g.160159414_160159424del, NC_000006.12:g.160159415_160159424del, NC_000006.12:g.160159416_160159424del, NC_000006.12:g.160159417_160159424del, NC_000006.12:g.160159418_160159424del, NC_000006.12:g.160159419_160159424del, NC_000006.12:g.160159420_160159424del, NC_000006.12:g.160159421_160159424del, NC_000006.12:g.160159422_160159424del, NC_000006.12:g.160159423_160159424del, NC_000006.12:g.160159424del, NC_000006.12:g.160159424dup, NC_000006.12:g.160159423_160159424dup, NC_000006.12:g.160159422_160159424dup, NC_000006.12:g.160159421_160159424dup, NC_000006.11:g.160580444_160580456del, NC_000006.11:g.160580445_160580456del, NC_000006.11:g.160580446_160580456del, NC_000006.11:g.160580447_160580456del, NC_000006.11:g.160580448_160580456del, NC_000006.11:g.160580449_160580456del, NC_000006.11:g.160580450_160580456del, NC_000006.11:g.160580451_160580456del, NC_000006.11:g.160580452_160580456del, NC_000006.11:g.160580453_160580456del, NC_000006.11:g.160580454_160580456del, NC_000006.11:g.160580455_160580456del, NC_000006.11:g.160580456del, NC_000006.11:g.160580456dup, NC_000006.11:g.160580455_160580456dup, NC_000006.11:g.160580454_160580456dup, NC_000006.11:g.160580453_160580456dup

Select item 14913394848.

rs1491339484 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:160139604 (GRCh38)
6:160560636 (GRCh37)
Canonical SPDI:: NC_000006.12:160139602:TCT:T
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000153/16 (ExAC)
-=0.260085/3172 (GoESP)
HGVS:: NC_000006.12:g.160139604_160139605del, NC_000006.11:g.160560636_160560637del

Select item 14911799399.

rs1491179939 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:160159398 (GRCh38)
6:160580430 (GRCh37)
Canonical SPDI:: NC_000006.12:160159397:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01821/216 (ALFA)
-=0.00128/54 (GnomAD)
-=0.00414/117 (TOMMO)
HGVS:: NC_000006.12:g.160159398_160159399del, NC_000006.11:g.160580430_160580431del

Select item 149109864610.

rs1491098646 has merged into rs1298548512 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCTCT [Show Flanks]
Chromosome:: 6:160152694 (GRCh38)
6:160573726 (GRCh37)
Canonical SPDI:: NC_000006.12:160152692:TCT:T,NC_000006.12:160152692:TCT:TCTCTCT
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCTCT=0./0 (ALFA)
TCTC=0.00005/5 (GnomAD)
HGVS:: NC_000006.12:g.160152694_160152695del, NC_000006.12:g.160152694CT[3], NC_000006.11:g.160573726_160573727del, NC_000006.11:g.160573726CT[3]

Select item 149093162311.

rs1490931623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:160130980 (GRCh38)
6:160552012 (GRCh37)
Canonical SPDI:: NC_000006.12:160130979:G:T
Gene:: SLC22A1 (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_000006.12:g.160130980G>T, NC_000006.11:g.160552012G>T

Select item 149088781412.

rs1490887814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:160138983 (GRCh38)
6:160560015 (GRCh37)
Canonical SPDI:: NC_000006.12:160138982:T:A
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.160138983T>A, NC_000006.11:g.160560015T>A

Select item 149079734413.

rs1490797344 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:160153527 (GRCh38)
6:160574559 (GRCh37)
Canonical SPDI:: NC_000006.12:160153526:TTT:TT
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160153529del, NC_000006.11:g.160574561del

Select item 149073391914.

rs1490733919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160144974 (GRCh38)
6:160566006 (GRCh37)
Canonical SPDI:: NC_000006.12:160144973:C:T
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160144974C>T, NC_000006.11:g.160566006C>T

Select item 149063277815.

rs1490632778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:160154711 (GRCh38)
6:160575743 (GRCh37)
Canonical SPDI:: NC_000006.12:160154710:G:A,NC_000006.12:160154710:G:T
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160154711G>A, NC_000006.12:g.160154711G>T, NC_000006.11:g.160575743G>A, NC_000006.11:g.160575743G>T

Select item 149059739316.

rs1490597393 has merged into rs1398955822 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:160157262 (GRCh38)
6:160578294 (GRCh37)
Canonical SPDI:: NC_000006.12:160157261:TTTTTTTT:TTTTTTT,NC_000006.12:160157261:TTTTTTTT:TTTTTTTTT
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000006.12:g.160157269del, NC_000006.12:g.160157269dup, NC_000006.11:g.160578301del, NC_000006.11:g.160578301dup

Select item 149058754317.

rs1490587543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160145673 (GRCh38)
6:160566705 (GRCh37)
Canonical SPDI:: NC_000006.12:160145672:C:T
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160145673C>T, NC_000006.11:g.160566705C>T

Select item 149057214318.

rs1490572143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160144448 (GRCh38)
6:160565480 (GRCh37)
Canonical SPDI:: NC_000006.12:160144447:A:G
Gene:: SLC22A1 (Varview)
Functional Consequence:: 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_000006.12:g.160144448A>G, NC_000006.11:g.160565480A>G

Select item 149049774019.

rs1490497740 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:160152658 (GRCh38)
6:160573690 (GRCh37)
Canonical SPDI:: NC_000006.12:160152656:TCT:T
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000006.12:g.160152658_160152659del, NC_000006.11:g.160573690_160573691del

Select item 149047164120.

rs1490471641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:160153420 (GRCh38)
6:160574452 (GRCh37)
Canonical SPDI:: NC_000006.12:160153419:T:C
Gene:: SLC22A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000006.12:g.160153420T>C, NC_000006.11:g.160574452T>C

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