SNP Links for Gene (Select 6582) - SNP

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Select item 14915367321.

rs1491536732 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 6:160245882 (GRCh38)
6:160666914 (GRCh37)
Canonical SPDI:: NC_000006.12:160245881:CCCC:CCC,NC_000006.12:160245881:CCCC:CCCCC
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.160245885del, NC_000006.12:g.160245885dup, NC_000006.11:g.160666917del, NC_000006.11:g.160666917dup

Select item 14914397182.

rs1491439718 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:160245881 (GRCh38)
6:160666913 (GRCh37)
Canonical SPDI:: NC_000006.12:160245880:TC:
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160245881_160245882del, NC_000006.11:g.160666913_160666914del

Select item 14910690713.

rs1491069071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 6:160256900 (GRCh38)
6:160677933 (GRCh37)
Canonical SPDI:: NC_000006.12:160256900:T:TT,NC_000006.12:160256900:T:TTT
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.00202/24 (ALFA)
T=0.00085/14 (TOMMO)
T=0.00478/260 (GnomAD)
HGVS:: NC_000006.12:g.160256901dup, NC_000006.12:g.160256901_160256902insTT, NC_000006.11:g.160677933dup, NC_000006.11:g.160677933_160677934insTT

Select item 14909542424.

rs1490954242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160250350 (GRCh38)
6:160671382 (GRCh37)
Canonical SPDI:: NC_000006.12:160250349:C:T
Gene:: SLC22A2 (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.160250350C>T, NC_000006.11:g.160671382C>T

Select item 14909407475.

rs1490940747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160234861 (GRCh38)
6:160655893 (GRCh37)
Canonical SPDI:: NC_000006.12:160234860:C:T
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160234861C>T, NC_000006.11:g.160655893C>T

Select item 14908547286.

rs1490854728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:160219140 (GRCh38)
6:160640172 (GRCh37)
Canonical SPDI:: NC_000006.12:160219139:A:G
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00684/20 (KOREAN)
HGVS:: NC_000006.12:g.160219140A>G, NC_000006.11:g.160640172A>G

Select item 14908226067.

rs1490822606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:160228353 (GRCh38)
6:160649385 (GRCh37)
Canonical SPDI:: NC_000006.12:160228352:C:A
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.160228353C>A, NC_000006.11:g.160649385C>A

Select item 14907383748.

rs1490738374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:160243199 (GRCh38)
6:160664231 (GRCh37)
Canonical SPDI:: NC_000006.12:160243198:T:C
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.160243199T>C, NC_000006.11:g.160664231T>C, NM_153191.1:c.*167A>G

Select item 14906862229.

rs1490686222 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGT>- [Show Flanks]
Chromosome:: 6:160242233 (GRCh38)
6:160663265 (GRCh37)
Canonical SPDI:: NC_000006.12:160242227:GTGGTGGT:GTGGT
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.160242230GGT[1], NC_000006.11:g.160663262GGT[1]

Select item 149057321910.

rs1490573219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:160242701 (GRCh38)
6:160663733 (GRCh37)
Canonical SPDI:: NC_000006.12:160242700:C:G
Gene:: SLC22A2 (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_000006.12:g.160242701C>G, NC_000006.11:g.160663733C>G, NM_153191.1:c.*665G>C

Select item 149052351511.

rs1490523515 has merged into rs10532482 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 6:160241890 (GRCh38)
6:160662922 (GRCh37)
Canonical SPDI:: NC_000006.12:160241877:TATATATATATATATATA:TATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATATATATA
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATA=0./0 (ALFA)
TATA=0.1821/767 (1000Genomes)
TATA=0.2372/914 (ALSPAC)
HGVS:: NC_000006.12:g.160241878TA[6], NC_000006.12:g.160241878TA[7], NC_000006.12:g.160241878TA[8], NC_000006.12:g.160241878TA[10], NC_000006.12:g.160241878TA[11], NC_000006.11:g.160662910TA[6], NC_000006.11:g.160662910TA[7], NC_000006.11:g.160662910TA[8], NC_000006.11:g.160662910TA[10], NC_000006.11:g.160662910TA[11]

Select item 149049459712.

rs1490494597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:160222343 (GRCh38)
6:160643375 (GRCh37)
Canonical SPDI:: NC_000006.12:160222342:T:A
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160222343T>A, NC_000006.11:g.160643375T>A

Select item 149046280713.

rs1490462807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:160259474 (GRCh38)
6:160680506 (GRCh37)
Canonical SPDI:: NC_000006.12:160259473:G:A
Gene:: SLC22A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.160259474G>A, NC_000006.11:g.160680506G>A

Select item 149042632914.

rs1490426329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:160221008 (GRCh38)
6:160642040 (GRCh37)
Canonical SPDI:: NC_000006.12:160221007:G:C
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.160221008G>C, NC_000006.11:g.160642040G>C

Select item 149042549915.

rs1490425499 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:160234022 (GRCh38)
6:160655054 (GRCh37)
Canonical SPDI:: NC_000006.12:160234021:T:G
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.160234022T>G, NC_000006.11:g.160655054T>G

Select item 149024080016.

rs1490240800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160257662 (GRCh38)
6:160678694 (GRCh37)
Canonical SPDI:: NC_000006.12:160257661:C:T
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160257662C>T, NC_000006.11:g.160678694C>T

Select item 149017324617.

rs1490173246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160218916 (GRCh38)
6:160639948 (GRCh37)
Canonical SPDI:: NC_000006.12:160218915:C:T
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00051/6 (ALFA)
T=0.07974/233 (KOREAN)
HGVS:: NC_000006.12:g.160218916C>T, NC_000006.11:g.160639948C>T

Select item 149016894918.

rs1490168949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:160241921 (GRCh38)
6:160662953 (GRCh37)
Canonical SPDI:: NC_000006.12:160241920:T:G
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.160241921T>G, NC_000006.11:g.160662953T>G

Select item 149011994819.

rs1490119948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160239748 (GRCh38)
6:160660780 (GRCh37)
Canonical SPDI:: NC_000006.12:160239747:C:T
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.160239748C>T, NC_000006.11:g.160660780C>T

Select item 149007193020.

rs1490071930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:160220899 (GRCh38)
6:160641931 (GRCh37)
Canonical SPDI:: NC_000006.12:160220898:C:T
Gene:: SLC22A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.160220899C>T, NC_000006.11:g.160641931C>T

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