SNP Links for Gene (Select 125206) - SNP

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Select item 14914545791.

rs1491454579 has merged into rs1283131713 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:18965100 (GRCh38)
17:18868413 (GRCh37)
Canonical SPDI:: NC_000017.11:18965087:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:18965087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:18965087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:18965087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:18965087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:18965087:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: SLC5A10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.025/1 (GENOME_DK)
HGVS:: NC_000017.11:g.18965100_18965102del, NC_000017.11:g.18965101_18965102del, NC_000017.11:g.18965102del, NC_000017.11:g.18965102dup, NC_000017.11:g.18965101_18965102dup, NC_000017.11:g.18965100_18965102dup, NC_000017.10:g.18868413_18868415del, NC_000017.10:g.18868414_18868415del, NC_000017.10:g.18868415del, NC_000017.10:g.18868415dup, NC_000017.10:g.18868414_18868415dup, NC_000017.10:g.18868413_18868415dup

Select item 14913616412.

rs1491361641 has merged into rs529997491 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 17:18996148 (GRCh38)
17:18899461 (GRCh37)
Canonical SPDI:: NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.02906/112 (ALSPAC)
-=0.02913/108 (TWINSUK)
-=0.16534/828 (1000Genomes)
HGVS:: NC_000017.11:g.18996148_18996149del, NC_000017.11:g.18996149del, NC_000017.11:g.18996149dup, NC_000017.11:g.18996148_18996149dup, NC_000017.11:g.18996147_18996149dup, NC_000017.11:g.18996144_18996149dup, NC_000017.10:g.18899461_18899462del, NC_000017.10:g.18899462del, NC_000017.10:g.18899462dup, NC_000017.10:g.18899461_18899462dup, NC_000017.10:g.18899460_18899462dup, NC_000017.10:g.18899457_18899462dup

Select item 14913391643.

rs1491339164 has merged into rs796955553 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:18997866 (GRCh38)
17:18901179 (GRCh37)
Canonical SPDI:: NC_000017.11:18997863:AGAG:AG
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.015497/287 (ALFA)
-=0./0 (TWINSUK)
-=0.000035/1 (TOMMO)
-=0.000223/1 (Estonian)
-=0.000519/2 (ALSPAC)
-=0.026702/134 (1000Genomes)
-=0.026765/3753 (GnomAD)
-=0.028675/7590 (TOPMED)
HGVS:: NC_000017.11:g.18997864AG[1], NC_000017.10:g.18901177AG[1]

Select item 14913140874.

rs1491314087 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:18996137 (GRCh38)
17:18899451 (GRCh37)
Canonical SPDI:: NC_000017.11:18996137::C
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.002092/25 (TOMMO)
C=0.004993/7 (Korea1K)
HGVS:: NC_000017.11:g.18996137_18996138insC, NC_000017.10:g.18899450_18899451insC

Select item 14913075615.

rs1491307561 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATTAT [Show Flanks]
Chromosome:: 17:19008814 (GRCh38)
17:18912128 (GRCh37)
Canonical SPDI:: NC_000017.11:19008814:T:TAT,NC_000017.11:19008814:T:TATTAT
Gene:: SLC5A10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATTAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.19008815_19008816insAT, NC_000017.11:g.19008815_19008816insATTAT, NC_000017.10:g.18912128_18912129insAT, NC_000017.10:g.18912128_18912129insATTAT

Select item 14912776936.

rs1491277693 has merged into rs1207007118 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 17:19008825 (GRCh38)
17:18912138 (GRCh37)
Canonical SPDI:: NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:19008813:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SLC5A10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.03673/67 (Korea1K)
HGVS:: NC_000017.11:g.19008825_19008830del, NC_000017.11:g.19008826_19008830del, NC_000017.11:g.19008827_19008830del, NC_000017.11:g.19008828_19008830del, NC_000017.11:g.19008829_19008830del, NC_000017.11:g.19008830del, NC_000017.11:g.19008830dup, NC_000017.11:g.19008828_19008830dup, NC_000017.11:g.19008827_19008830dup, NC_000017.10:g.18912138_18912143del, NC_000017.10:g.18912139_18912143del, NC_000017.10:g.18912140_18912143del, NC_000017.10:g.18912141_18912143del, NC_000017.10:g.18912142_18912143del, NC_000017.10:g.18912143del, NC_000017.10:g.18912143dup, NC_000017.10:g.18912141_18912143dup, NC_000017.10:g.18912140_18912143dup

Select item 14912578887.

rs1491257888 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:19001877 (GRCh38)
17:18905190 (GRCh37)
Canonical SPDI:: NC_000017.11:19001874:CACA:CA
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19001875CA[1], NC_000017.10:g.18905188CA[1]

Select item 14912117638.

rs1491211763 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:19001875 (GRCh38)
17:18905189 (GRCh37)
Canonical SPDI:: NC_000017.11:19001875:A:AA
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000283/5 (TOMMO)
HGVS:: NC_000017.11:g.19001876dup, NC_000017.10:g.18905189dup

Select item 14911006859.

rs1491100685 has merged into rs36006919 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:19007203 (GRCh38)
17:18910516 (GRCh37)
Canonical SPDI:: NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:19007193:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.3237/1621 (1000Genomes)
HGVS:: NC_000017.11:g.19007203_19007210del, NC_000017.11:g.19007204_19007210del, NC_000017.11:g.19007205_19007210del, NC_000017.11:g.19007207_19007210del, NC_000017.11:g.19007208_19007210del, NC_000017.11:g.19007209_19007210del, NC_000017.11:g.19007210del, NC_000017.11:g.19007210dup, NC_000017.11:g.19007209_19007210dup, NC_000017.11:g.19007208_19007210dup, NC_000017.11:g.19007207_19007210dup, NC_000017.10:g.18910516_18910523del, NC_000017.10:g.18910517_18910523del, NC_000017.10:g.18910518_18910523del, NC_000017.10:g.18910520_18910523del, NC_000017.10:g.18910521_18910523del, NC_000017.10:g.18910522_18910523del, NC_000017.10:g.18910523del, NC_000017.10:g.18910523dup, NC_000017.10:g.18910522_18910523dup, NC_000017.10:g.18910521_18910523dup, NC_000017.10:g.18910520_18910523dup

Select item 149106442710.

rs1491064427 has merged into rs555014135 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 17:18995924 (GRCh38)
17:18899237 (GRCh37)
Canonical SPDI:: NC_000017.11:18995911:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:18995911:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:18995911:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:18995911:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:18995911:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:18995911:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:18995911:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.18995924_18995927del, NC_000017.11:g.18995925_18995927del, NC_000017.11:g.18995926_18995927del, NC_000017.11:g.18995927del, NC_000017.11:g.18995927dup, NC_000017.11:g.18995926_18995927dup, NC_000017.11:g.18995925_18995927dup, NC_000017.10:g.18899237_18899240del, NC_000017.10:g.18899238_18899240del, NC_000017.10:g.18899239_18899240del, NC_000017.10:g.18899240del, NC_000017.10:g.18899240dup, NC_000017.10:g.18899239_18899240dup, NC_000017.10:g.18899238_18899240dup

Select item 149105358911.

rs1491053589 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:18967421 (GRCh38)
17:18870734 (GRCh37)
Canonical SPDI:: NC_000017.11:18967417:TGTGT:TGT
Gene:: SLC5A10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.000071/1 (ALFA)
-=0.000086/12 (GnomAD)
-=0.000125/33 (TOPMED)
HGVS:: NC_000017.11:g.18967419GT[1], NC_000017.10:g.18870732GT[1]

Select item 149105314112.

rs1491053141 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:19007210 (GRCh38)
17:18910523 (GRCh37)
Canonical SPDI:: NC_000017.11:19007209:TG:
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.19007210_19007211del, NC_000017.10:g.18910523_18910524del

Select item 149090967413.

rs1490909674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:18991856 (GRCh38)
17:18895169 (GRCh37)
Canonical SPDI:: NC_000017.11:18991855:A:C
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000017.11:g.18991856A>C, NC_000017.10:g.18895169A>C

Select item 149090452614.

rs1490904526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:18977546 (GRCh38)
17:18880859 (GRCh37)
Canonical SPDI:: NC_000017.11:18977545:G:A
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.18977546G>A, NC_000017.10:g.18880859G>A

Select item 149087309615.

rs1490873096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19013526 (GRCh38)
17:18916839 (GRCh37)
Canonical SPDI:: NC_000017.11:19013525:G:A
Gene:: SLC5A10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.19013526G>A, NC_000017.10:g.18916839G>A

Select item 149084266116.

rs1490842661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:18990771 (GRCh38)
17:18894084 (GRCh37)
Canonical SPDI:: NC_000017.11:18990770:A:C
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.18990771A>C, NC_000017.10:g.18894084A>C

Select item 149084242517.

rs1490842425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:18990713 (GRCh38)
17:18894026 (GRCh37)
Canonical SPDI:: NC_000017.11:18990712:A:C
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.18990713A>C, NC_000017.10:g.18894026A>C

Select item 149082622218.

rs1490826222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19020470 (GRCh38)
17:18923783 (GRCh37)
Canonical SPDI:: NC_000017.11:19020469:C:T
Gene:: GRAP (Varview), SLC5A10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.19020470C>T, NC_000017.10:g.18923783C>T, NM_152351.6:c.*39C>T, NM_152351.5:c.*39C>T, NM_152351.4:c.*39C>T, NM_001042450.4:c.*39C>T, NM_001042450.3:c.*39C>T, NM_001042450.2:c.*39C>T, XM_017024191.3:c.*39C>T, XM_017024191.2:c.*39C>T, XM_017024191.1:c.*39C>T, NM_001270648.3:c.*39C>T, NM_001270648.2:c.*39C>T, NM_001270648.1:c.*39C>T, NM_001270649.2:c.*39C>T, NM_001270649.1:c.*39C>T, NR_073067.1:n.1980C>T, NM_001282417.1:c.*39C>T

Select item 149082140419.

rs1490821404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:19020801 (GRCh38)
17:18924114 (GRCh37)
Canonical SPDI:: NC_000017.11:19020800:G:C
Gene:: GRAP (Varview), SLC5A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.19020801G>C, NC_000017.10:g.18924114G>C, NM_152351.6:c.*370G>C, NM_152351.5:c.*370G>C, NM_001042450.4:c.*370G>C, NM_001042450.3:c.*370G>C, NM_006613.4:c.*1158C>G, NM_006613.3:c.*1158C>G, XM_017024191.3:c.*370G>C, NM_001270648.3:c.*370G>C, NM_001270648.2:c.*370G>C, NM_001270649.2:c.*370G>C, NM_001330148.2:c.*1025C>G, NM_001330148.1:c.*1025C>G, XM_047435154.1:c.*1158C>G, XM_047435155.1:c.*1025C>G

Select item 149075212420.

rs1490752124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:18970102 (GRCh38)
17:18873415 (GRCh37)
Canonical SPDI:: NC_000017.11:18970101:A:G
Gene:: SLC5A10 (Varview), FAM83G (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.18970102A>G, NC_000017.10:g.18873415A>G, XM_017024953.3:c.*1257T>C, XM_017024953.2:c.*1257T>C, XM_017024953.1:c.*1257T>C, NM_001039999.3:c.*1257T>C

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