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Select item 14912976881.

rs1491297688 has merged into rs3076071 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC [Show Flanks]
Chromosome:: 4:99321658 (GRCh38)
4:100242815 (GRCh37)
Canonical SPDI:: NC_000004.12:99321650:CCCCCCCCC:CCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCCCCCC
Gene:: ADH1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
C=0.2993/1499 (1000Genomes)
HGVS:: NC_000004.12:g.99321658_99321659del, NC_000004.12:g.99321659del, NC_000004.12:g.99321659dup, NC_000004.12:g.99321658_99321659dup, NC_000004.12:g.99321657_99321659dup, NC_000004.12:g.99321655_99321659dup, NC_000004.12:g.99321653_99321659dup, NC_000004.12:g.99321652_99321659dup, NC_000004.12:g.99321651_99321659dup, NC_000004.11:g.100242815_100242816del, NC_000004.11:g.100242816del, NC_000004.11:g.100242816dup, NC_000004.11:g.100242815_100242816dup, NC_000004.11:g.100242814_100242816dup, NC_000004.11:g.100242812_100242816dup, NC_000004.11:g.100242810_100242816dup, NC_000004.11:g.100242809_100242816dup, NC_000004.11:g.100242808_100242816dup, NG_011435.1:g.4764_4765del, NG_011435.1:g.4765del, NG_011435.1:g.4765dup, NG_011435.1:g.4764_4765dup, NG_011435.1:g.4763_4765dup, NG_011435.1:g.4761_4765dup, NG_011435.1:g.4759_4765dup, NG_011435.1:g.4758_4765dup, NG_011435.1:g.4757_4765dup, NG_055569.1:g.392_393del, NG_055569.1:g.393del, NG_055569.1:g.393dup, NG_055569.1:g.392_393dup, NG_055569.1:g.391_393dup, NG_055569.1:g.389_393dup, NG_055569.1:g.387_393dup, NG_055569.1:g.386_393dup, NG_055569.1:g.385_393dup

Select item 14909627232.

rs1490962723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:99313283 (GRCh38)
4:100234440 (GRCh37)
Canonical SPDI:: NC_000004.12:99313282:T:C
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.99313283T>C, NC_000004.11:g.100234440T>C, NG_011435.1:g.13133A>G

Select item 14907245883.

rs1490724588 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 4:99320946 (GRCh38)
4:100242103 (GRCh37)
Canonical SPDI:: NC_000004.12:99320940:AATAATAA:AATAA
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.99320943TAA[1], NC_000004.11:g.100242100TAA[1], NG_011435.1:g.5470ATT[1]

Select item 14906115664.

rs1490611566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99314381 (GRCh38)
4:100235538 (GRCh37)
Canonical SPDI:: NC_000004.12:99314380:C:T
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.99314381C>T, NC_000004.11:g.100235538C>T, NG_011435.1:g.12035G>A

Select item 14905389365.

rs1490538936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99321647 (GRCh38)
4:100242804 (GRCh37)
Canonical SPDI:: NC_000004.12:99321646:C:T
Gene:: ADH1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.99321647C>T, NC_000004.11:g.100242804C>T, NG_011435.1:g.4769G>A, NG_055569.1:g.381C>T

Select item 14904484136.

rs1490448413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:99313808 (GRCh38)
4:100234965 (GRCh37)
Canonical SPDI:: NC_000004.12:99313807:T:C
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.99313808T>C, NC_000004.11:g.100234965T>C, NG_011435.1:g.12608A>G

Select item 14904004587.

rs1490400458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:99310306 (GRCh38)
4:100231463 (GRCh37)
Canonical SPDI:: NC_000004.12:99310305:A:G
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.99310306A>G, NC_000004.11:g.100231463A>G, NG_011435.1:g.16110T>C

Select item 14903602578.

rs1490360257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:99312252 (GRCh38)
4:100233409 (GRCh37)
Canonical SPDI:: NC_000004.12:99312251:C:G
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.99312252C>G, NC_000004.11:g.100233409C>G, NG_011435.1:g.14164G>C

Select item 14902818389.

rs1490281838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:99321265 (GRCh38)
4:100242422 (GRCh37)
Canonical SPDI:: NC_000004.12:99321264:G:A
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.99321265G>A, NC_000004.11:g.100242422G>A, NG_011435.1:g.5151C>T

Select item 149026466510.

rs1490264665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:99322279 (GRCh38)
4:100243436 (GRCh37)
Canonical SPDI:: NC_000004.12:99322278:A:C
Gene:: ADH1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.99322279A>C, NC_000004.11:g.100243436A>C, NG_011435.1:g.4137T>G

Select item 148975704911.

rs1489757049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99315498 (GRCh38)
4:100236655 (GRCh37)
Canonical SPDI:: NC_000004.12:99315497:C:T
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.99315498C>T, NC_000004.11:g.100236655C>T, NG_011435.1:g.10918G>A

Select item 148955266712.

rs1489552667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:99318908 (GRCh38)
4:100240065 (GRCh37)
Canonical SPDI:: NC_000004.12:99318907:T:G
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.99318908T>G, NC_000004.11:g.100240065T>G, NG_011435.1:g.7508A>C, NG_083443.1:g.1305T>G

Select item 148931771613.

rs1489317716 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 4:99320521 (GRCh38)
4:100241678 (GRCh37)
Canonical SPDI:: NC_000004.12:99320520:T:
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.99320521del, NC_000004.11:g.100241678del, NG_011435.1:g.5895del

Select item 148900429414.

rs1489004294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:99309401 (GRCh38)
4:100230558 (GRCh37)
Canonical SPDI:: NC_000004.12:99309400:C:A,NC_000004.12:99309400:C:T
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.99309401C>A, NC_000004.12:g.99309401C>T, NC_000004.11:g.100230558C>A, NC_000004.11:g.100230558C>T, NG_011435.1:g.17015G>T, NG_011435.1:g.17015G>A

Select item 148896642215.

rs1488966422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:99306341 (GRCh38)
4:100227498 (GRCh37)
Canonical SPDI:: NC_000004.12:99306340:G:T
Gene:: ADH1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.99306341G>T, NC_000004.11:g.100227498G>T, NG_011435.1:g.20075C>A, NM_000668.6:c.*1499C>A, NM_001286650.2:c.*1499C>A

Select item 148891814316.

rs1488918143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:99322370 (GRCh38)
4:100243527 (GRCh37)
Canonical SPDI:: NC_000004.12:99322369:A:G
Gene:: ADH1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.99322370A>G, NC_000004.11:g.100243527A>G, NG_011435.1:g.4046T>C

Select item 148841296317.

rs1488412963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99321507 (GRCh38)
4:100242664 (GRCh37)
Canonical SPDI:: NC_000004.12:99321506:C:T
Gene:: ADH1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.99321507C>T, NC_000004.11:g.100242664C>T, NG_011435.1:g.4909G>A, NG_055569.1:g.241C>T

Select item 148826965918.

rs1488269659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:99308595 (GRCh38)
4:100229752 (GRCh37)
Canonical SPDI:: NC_000004.12:99308594:A:G
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.99308595A>G, NC_000004.11:g.100229752A>G, NG_011435.1:g.17821T>C

Select item 148790474519.

rs1487904745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:99312175 (GRCh38)
4:100233332 (GRCh37)
Canonical SPDI:: NC_000004.12:99312174:T:C
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.99312175T>C, NC_000004.11:g.100233332T>C, NG_011435.1:g.14241A>G

Select item 148788167720.

rs1487881677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:99313376 (GRCh38)
4:100234533 (GRCh37)
Canonical SPDI:: NC_000004.12:99313375:G:T
Gene:: ADH1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.99313376G>T, NC_000004.11:g.100234533G>T, NG_011435.1:g.13040C>A

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