SNP Links for Gene (Select 64241) - SNP

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Select item 14914511351.

rs1491451135 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGCCGGGCGCGGTGGCTC,GGCCGGGCGCGGTGGCTCATGCCTGT [Show Flanks]
Chromosome:: 2:43852962 (GRCh38)
2:44080102 (GRCh37)
Canonical SPDI:: NC_000002.12:43852962::GGCCGGGCGCGGTGGCTC,NC_000002.12:43852962::GGCCGGGCGCGGTGGCTCATGCCTGT
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GGCCGGGCGCGGTGGCTCATGCCTGT=0.0016/7 (Estonian)
HGVS:: NC_000002.12:g.43852962_43852963insGGCCGGGCGCGGTGGCTC, NC_000002.12:g.43852962_43852963insGGCCGGGCGCGGTGGCTCATGCCTGT, NC_000002.11:g.44080101_44080102insGGCCGGGCGCGGTGGCTC, NC_000002.11:g.44080101_44080102insGGCCGGGCGCGGTGGCTCATGCCTGT, NG_008884.2:g.26021_26022insGGCCGGGCGCGGTGGCTC, NG_008884.2:g.26021_26022insGGCCGGGCGCGGTGGCTCATGCCTGT

Select item 14914304382.

rs1491430438 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:43831370 (GRCh38)
2:44058509 (GRCh37)
Canonical SPDI:: NC_000002.12:43831368:CGC:C
Gene:: ABCG5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.43831370_43831371del, NC_000002.11:g.44058509_44058510del, NG_008884.2:g.4429_4430del, NG_008883.1:g.12450_12451del

Select item 14914261923.

rs1491426192 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:43874398 (GRCh38)
2:44101537 (GRCh37)
Canonical SPDI:: NC_000002.12:43874397:AC:
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.43874398_43874399del, NC_000002.11:g.44101537_44101538del, NG_008884.2:g.47457_47458del

Select item 14913576984.

rs1491357698 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AAA [Show Flanks]
Chromosome:: 2:43845120 (GRCh38)
2:44072259 (GRCh37)
Canonical SPDI:: NC_000002.12:43845119:AA:A,NC_000002.12:43845119:AA:AAAA
Gene:: ABCG8 (Varview), LOC102725159 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AA=0.000169/20 (GnomAD)
HGVS:: NC_000002.12:g.43845121del, NC_000002.12:g.43845120_43845121dup, NC_000002.11:g.44072260del, NC_000002.11:g.44072259_44072260dup, NG_008884.2:g.18180del, NG_008884.2:g.18179_18180dup

Select item 14912876355.

rs1491287635 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CACA,CACAAACACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA [Show Flanks]
Chromosome:: 2:43846988 (GRCh38)
2:44074128 (GRCh37)
Canonical SPDI:: NC_000002.12:43846988::CA,NC_000002.12:43846988::CACA,NC_000002.12:43846988::CACAAACACA,NC_000002.12:43846988::CACACA,NC_000002.12:43846988::CACACACA,NC_000002.12:43846988::CACACACACA,NC_000002.12:43846988::CACACACACACA,NC_000002.12:43846988::CACACACACACACACA
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
CA=0./0 (GnomAD)
HGVS:: NC_000002.12:g.43846988_43846989insCA, NC_000002.12:g.43846988_43846989insCACA, NC_000002.12:g.43846988_43846989insCACAAACACA, NC_000002.12:g.43846988_43846989insCACACA, NC_000002.12:g.43846988_43846989insCACACACA, NC_000002.12:g.43846988_43846989insCACACACACA, NC_000002.12:g.43846988_43846989insCACACACACACA, NC_000002.12:g.43846988_43846989insCACACACACACACACA, NC_000002.11:g.44074127_44074128insCA, NC_000002.11:g.44074127_44074128insCACA, NC_000002.11:g.44074127_44074128insCACAAACACA, NC_000002.11:g.44074127_44074128insCACACA, NC_000002.11:g.44074127_44074128insCACACACA, NC_000002.11:g.44074127_44074128insCACACACACA, NC_000002.11:g.44074127_44074128insCACACACACACA, NC_000002.11:g.44074127_44074128insCACACACACACACACA, NG_008884.2:g.20047_20048insCA, NG_008884.2:g.20047_20048insCACA, NG_008884.2:g.20047_20048insCACAAACACA, NG_008884.2:g.20047_20048insCACACA, NG_008884.2:g.20047_20048insCACACACA, NG_008884.2:g.20047_20048insCACACACACA, NG_008884.2:g.20047_20048insCACACACACACA, NG_008884.2:g.20047_20048insCACACACACACACACA

Select item 14911817986.

rs1491181798 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:43852963 (GRCh38)
2:44080102 (GRCh37)
Canonical SPDI:: NC_000002.12:43852961:AAA:A
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.43852963_43852964del, NC_000002.11:g.44080102_44080103del, NG_008884.2:g.26022_26023del

Select item 14908540657.

rs1490854065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:43832018 (GRCh38)
2:44059157 (GRCh37)
Canonical SPDI:: NC_000002.12:43832017:C:G
Gene:: ABCG5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_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_000002.12:g.43832018C>G, NC_000002.11:g.44059157C>G, NG_008884.2:g.5077C>G, NG_008883.1:g.11802G>C, NM_022436.3:c.331G>C, NM_022436.2:c.331G>C, XM_005264480.5:c.331G>C, XM_005264480.4:c.331G>C, XM_005264480.3:c.331G>C, XM_005264480.2:c.331G>C, XM_005264480.1:c.331G>C, XM_011533025.4:c.88G>C, XM_011533025.3:c.88G>C, XM_011533025.2:c.88G>C, XM_011533025.1:c.88G>C, XM_006712073.4:c.331G>C, XM_006712073.3:c.331G>C, XM_006712073.2:c.331G>C, XM_006712073.1:c.331G>C, XM_006712074.4:c.331G>C, XM_006712074.3:c.331G>C, XM_006712074.2:c.331G>C, XM_006712074.1:c.331G>C, XM_011533024.3:c.331G>C, XM_011533024.2:c.331G>C, XM_011533024.1:c.331G>C, XM_011533026.3:c.331G>C, XM_011533026.2:c.331G>C, XM_011533026.1:c.331G>C, XM_047445411.1:c.88G>C, XM_047445409.1:c.88G>C, XM_047445410.1:c.88G>C, NP_071881.1:p.Gly111Arg, XP_005264537.1:p.Gly111Arg, XP_011531327.1:p.Gly30Arg, XP_006712136.1:p.Gly111Arg, XP_006712137.1:p.Gly111Arg, XP_011531326.1:p.Gly111Arg, XP_011531328.1:p.Gly111Arg, XP_047301367.1:p.Gly30Arg, XP_047301365.1:p.Gly30Arg, XP_047301366.1:p.Gly30Arg

Select item 14908511048.

rs1490851104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43855904 (GRCh38)
2:44083043 (GRCh37)
Canonical SPDI:: NC_000002.12:43855903:C:T
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.43855904C>T, NC_000002.11:g.44083043C>T, NG_008884.2:g.28963C>T

Select item 14907908489.

rs1490790848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43858850 (GRCh38)
2:44085989 (GRCh37)
Canonical SPDI:: NC_000002.12:43858849:C:T
Gene:: ABCG8 (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_000002.12:g.43858850C>T, NC_000002.11:g.44085989C>T, NG_008884.2:g.31909C>T

Select item 149077081110.

rs1490770811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:43848672 (GRCh38)
2:44075811 (GRCh37)
Canonical SPDI:: NC_000002.12:43848671:C:A,NC_000002.12:43848671:C:G
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43848672C>A, NC_000002.12:g.43848672C>G, NC_000002.11:g.44075811C>A, NC_000002.11:g.44075811C>G, NG_008884.2:g.21731C>A, NG_008884.2:g.21731C>G

Select item 149071878811.

rs1490718788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:43878395 (GRCh38)
2:44105534 (GRCh37)
Canonical SPDI:: NC_000002.12:43878394:A:G
Gene:: ABCG8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43878395A>G, NC_000002.11:g.44105534A>G, NG_008884.2:g.51454A>G, NM_022437.3:c.*482A>G, NM_022437.2:c.*482A>G, NM_001357321.2:c.*482A>G, NM_001357321.1:c.*482A>G

Select item 149066522712.

rs1490665227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:43866982 (GRCh38)
2:44094121 (GRCh37)
Canonical SPDI:: NC_000002.12:43866981:G:A
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.43866982G>A, NC_000002.11:g.44094121G>A, NG_008884.2:g.40041G>A

Select item 149062657113.

rs1490626571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:43858605 (GRCh38)
2:44085744 (GRCh37)
Canonical SPDI:: NC_000002.12:43858604:G:C,NC_000002.12:43858604:G:T
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.43858605G>C, NC_000002.12:g.43858605G>T, NC_000002.11:g.44085744G>C, NC_000002.11:g.44085744G>T, NG_008884.2:g.31664G>C, NG_008884.2:g.31664G>T

Select item 149060801814.

rs1490608018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43848298 (GRCh38)
2:44075437 (GRCh37)
Canonical SPDI:: NC_000002.12:43848297:C:T
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.43848298C>T, NC_000002.11:g.44075437C>T, NG_008884.2:g.21357C>T

Select item 149055843415.

rs1490558434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43877975 (GRCh38)
2:44105114 (GRCh37)
Canonical SPDI:: NC_000002.12:43877974:C:T
Gene:: ABCG8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43877975C>T, NC_000002.11:g.44105114C>T, NG_008884.2:g.51034C>T, NM_022437.3:c.*62C>T, NM_022437.2:c.*62C>T, NM_001357321.2:c.*62C>T, NM_001357321.1:c.*62C>T

Select item 149049819816.

rs1490498198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:43853685 (GRCh38)
2:44080824 (GRCh37)
Canonical SPDI:: NC_000002.12:43853684:T:A,NC_000002.12:43853684:T:C
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.43853685T>A, NC_000002.12:g.43853685T>C, NC_000002.11:g.44080824T>A, NC_000002.11:g.44080824T>C, NG_008884.2:g.26744T>A, NG_008884.2:g.26744T>C

Select item 149045948117.

rs1490459481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43841684 (GRCh38)
2:44068823 (GRCh37)
Canonical SPDI:: NC_000002.12:43841683:C:T
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43841684C>T, NC_000002.11:g.44068823C>T, NG_008884.2:g.14743C>T, NG_008883.1:g.2136G>A

Select item 149040565018.

rs1490405650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:43854294 (GRCh38)
2:44081433 (GRCh37)
Canonical SPDI:: NC_000002.12:43854293:C:A,NC_000002.12:43854293:C:T
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.43854294C>A, NC_000002.12:g.43854294C>T, NC_000002.11:g.44081433C>A, NC_000002.11:g.44081433C>T, NG_008884.2:g.27353C>A, NG_008884.2:g.27353C>T

Select item 149033127119.

rs1490331271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:43859631 (GRCh38)
2:44086770 (GRCh37)
Canonical SPDI:: NC_000002.12:43859630:A:G
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.43859631A>G, NC_000002.11:g.44086770A>G, NG_008884.2:g.32690A>G

Select item 149025182320.

rs1490251823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:43868741 (GRCh38)
2:44095880 (GRCh37)
Canonical SPDI:: NC_000002.12:43868740:T:C
Gene:: ABCG8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.43868741T>C, NC_000002.11:g.44095880T>C, NG_008884.2:g.41800T>C

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