SNP Links for Gene (Select 728661) - SNP

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Select item 14915285531.

rs1491528553 has merged into rs3044699 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:1692912 (GRCh38)
1:1624351 (GRCh37)
Canonical SPDI:: NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:1692900:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC35E2B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.2332/1168 (1000Genomes)
TTT=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.1692912_1692916del, NC_000001.11:g.1692913_1692916del, NC_000001.11:g.1692914_1692916del, NC_000001.11:g.1692915_1692916del, NC_000001.11:g.1692916del, NC_000001.11:g.1692916dup, NC_000001.11:g.1692915_1692916dup, NC_000001.11:g.1692914_1692916dup, NC_000001.11:g.1692913_1692916dup, NC_000001.11:g.1692912_1692916dup, NC_000001.11:g.1692911_1692916dup, NC_000001.11:g.1692910_1692916dup, NC_000001.10:g.1624351_1624355del, NC_000001.10:g.1624352_1624355del, NC_000001.10:g.1624353_1624355del, NC_000001.10:g.1624354_1624355del, NC_000001.10:g.1624355del, NC_000001.10:g.1624355dup, NC_000001.10:g.1624354_1624355dup, NC_000001.10:g.1624353_1624355dup, NC_000001.10:g.1624352_1624355dup, NC_000001.10:g.1624351_1624355dup, NC_000001.10:g.1624350_1624355dup, NC_000001.10:g.1624349_1624355dup, NG_034044.1:g.4900_4904del, NG_034044.1:g.4901_4904del, NG_034044.1:g.4902_4904del, NG_034044.1:g.4903_4904del, NG_034044.1:g.4904del, NG_034044.1:g.4904dup, NG_034044.1:g.4903_4904dup, NG_034044.1:g.4902_4904dup, NG_034044.1:g.4901_4904dup, NG_034044.1:g.4900_4904dup, NG_034044.1:g.4899_4904dup, NG_034044.1:g.4898_4904dup

Select item 14915023472.

rs1491502347 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:1687734 (GRCh38)
1:1619173 (GRCh37)
Canonical SPDI:: NC_000001.11:1687733:CA:
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.1687734_1687735del, NC_000001.10:g.1619173_1619174del, NG_034044.1:g.10070_10071del

Select item 14914567893.

rs1491456789 has merged into rs74867904 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 1:1687747 (GRCh38)
1:1619186 (GRCh37)
Canonical SPDI:: NC_000001.11:1687734:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:1687734:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:1687734:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:1687734:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:1687734:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.1687747_1687750del, NC_000001.11:g.1687748_1687750del, NC_000001.11:g.1687749_1687750del, NC_000001.11:g.1687750del, NC_000001.11:g.1687750dup, NC_000001.10:g.1619186_1619189del, NC_000001.10:g.1619187_1619189del, NC_000001.10:g.1619188_1619189del, NC_000001.10:g.1619189del, NC_000001.10:g.1619189dup, NG_034044.1:g.10067_10070del, NG_034044.1:g.10068_10070del, NG_034044.1:g.10069_10070del, NG_034044.1:g.10070del, NG_034044.1:g.10070dup

Select item 14910945534.

rs1491094553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:1692901 (GRCh38)
1:1624341 (GRCh37)
Canonical SPDI:: NC_000001.11:1692901:T:TGT
Gene:: SLC35E2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00062/5 (GnomAD)
HGVS:: NC_000001.11:g.1692902_1692903insGT, NC_000001.10:g.1624341_1624342insGT, NG_034044.1:g.4903_4904insCA

Select item 14910853775.

rs1491085377 has merged into rs931886708 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 1:1690321 (GRCh38)
1:1621760 (GRCh37)
Canonical SPDI:: NC_000001.11:1690307:ATATATATATATATATA:ATATATATATATA,NC_000001.11:1690307:ATATATATATATATATA:ATATATATATATATA,NC_000001.11:1690307:ATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:1690307:ATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:1690307:ATATATATATATATATA:ATATATATATATATATATATATA
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATA=0./0 (ALFA)
-=0.01232/22 (Korea1K)
HGVS:: NC_000001.11:g.1690309TA[6], NC_000001.11:g.1690309TA[7], NC_000001.11:g.1690309TA[9], NC_000001.11:g.1690309TA[10], NC_000001.11:g.1690309TA[11], NC_000001.10:g.1621748TA[6], NC_000001.10:g.1621748TA[7], NC_000001.10:g.1621748TA[9], NC_000001.10:g.1621748TA[10], NC_000001.10:g.1621748TA[11], NG_034044.1:g.7482AT[6], NG_034044.1:g.7482AT[7], NG_034044.1:g.7482AT[9], NG_034044.1:g.7482AT[10], NG_034044.1:g.7482AT[11]

Select item 14910172386.

rs1491017238 has merged into rs202244077 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:1685117 (GRCh38)
1:1616556 (GRCh37)
Canonical SPDI:: NC_000001.11:1685108:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:1685108:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:1685108:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:1685108:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:1685108:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:1685108:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:1685108:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
-=0.4004/2005 (1000Genomes)
HGVS:: NC_000001.11:g.1685117_1685124del, NC_000001.11:g.1685122_1685124del, NC_000001.11:g.1685123_1685124del, NC_000001.11:g.1685124del, NC_000001.11:g.1685124dup, NC_000001.11:g.1685123_1685124dup, NC_000001.11:g.1685121_1685124dup, NC_000001.10:g.1616556_1616563del, NC_000001.10:g.1616561_1616563del, NC_000001.10:g.1616562_1616563del, NC_000001.10:g.1616563del, NC_000001.10:g.1616563dup, NC_000001.10:g.1616562_1616563dup, NC_000001.10:g.1616560_1616563dup, NG_034044.1:g.12689_12696del, NG_034044.1:g.12694_12696del, NG_034044.1:g.12695_12696del, NG_034044.1:g.12696del, NG_034044.1:g.12696dup, NG_034044.1:g.12695_12696dup, NG_034044.1:g.12693_12696dup

Select item 14909817997.

rs1490981799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:1692816 (GRCh38)
1:1624255 (GRCh37)
Canonical SPDI:: NC_000001.11:1692815:G:T
Gene:: SLC35E2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1692816G>T, NC_000001.10:g.1624255G>T, NG_034044.1:g.4989C>A

Select item 14908884708.

rs1490888470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:1677898 (GRCh38)
1:1609337 (GRCh37)
Canonical SPDI:: NC_000001.11:1677897:A:C
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.1677898A>C, NC_000001.10:g.1609337A>C, NG_034044.1:g.19907T>G

Select item 14908756099.

rs1490875609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:1688404 (GRCh38)
1:1619843 (GRCh37)
Canonical SPDI:: NC_000001.11:1688403:A:C,NC_000001.11:1688403:A:T
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1688404A>C, NC_000001.11:g.1688404A>T, NC_000001.10:g.1619843A>C, NC_000001.10:g.1619843A>T, NG_034044.1:g.9401T>G, NG_034044.1:g.9401T>A

Select item 149085930710.

rs1490859307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:1678505 (GRCh38)
1:1609944 (GRCh37)
Canonical SPDI:: NC_000001.11:1678504:T:A
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1678505T>A, NC_000001.10:g.1609944T>A, NG_034044.1:g.19300A>T

Select item 149078563311.

rs1490785633 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:1667515 (GRCh38)
1:1598954 (GRCh37)
Canonical SPDI:: NC_000001.11:1667514:TTT:TT
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000053/14 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.1667517del, NC_000001.10:g.1598956del, NG_034044.1:g.30290del

Select item 149075967212.

rs1490759672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGT [Show Flanks]
Chromosome:: 1:1666833 (GRCh38)
1:1598273 (GRCh37)
Canonical SPDI:: NC_000001.11:1666833:CGT:CGTCGT
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGTCGT=0./0 (ALFA)
CGT=0.000004/1 (TOPMED)
CGT=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1666834_1666836dup, NC_000001.10:g.1598273_1598275dup, NG_034044.1:g.30969_30971dup

Select item 149074391413.

rs1490743914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:1669376 (GRCh38)
1:1600815 (GRCh37)
Canonical SPDI:: NC_000001.11:1669375:T:G
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1669376T>G, NC_000001.10:g.1600815T>G, NG_034044.1:g.28429A>C

Select item 149072234114.

rs1490722341 [Homo sapiens]

Variant type:: SNV:
Alleles:: >
Chromosome:: no mapping
Canonical SPDI:

Select item 149062040015.

rs1490620400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1667882 (GRCh38)
1:1599321 (GRCh37)
Canonical SPDI:: NC_000001.11:1667881:C:T
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
T=0.001369/4 (KOREAN)
HGVS:: NC_000001.11:g.1667882C>T, NC_000001.10:g.1599321C>T, NG_034044.1:g.29923G>A

Select item 149055569516.

rs1490555695 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGGTTCCGCCCG>- [Show Flanks]
Chromosome:: 1:1693190 (GRCh38)
1:1624629 (GRCh37)
Canonical SPDI:: NC_000001.11:1693184:GCCCGTTGGTTCCGCCCG:GCCCG
Gene:: SLC35E2B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GCCCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1693190_1693202del, NC_000001.10:g.1624629_1624641del, NG_034044.1:g.4608_4620del

Select item 149049715417.

rs1490497154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1673279 (GRCh38)
1:1604718 (GRCh37)
Canonical SPDI:: NC_000001.11:1673278:A:G
Gene:: SLC35E2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.1673279A>G, NC_000001.10:g.1604718A>G, NG_022766.2:g.97A>G, NG_034044.1:g.24526T>C

Select item 149047313618.

rs1490473136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1668390 (GRCh38)
1:1599829 (GRCh37)
Canonical SPDI:: NC_000001.11:1668389:A:G
Gene:: SLC35E2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.1668390A>G, NC_000001.10:g.1599829A>G, NG_034044.1:g.29415T>C, NM_001110781.3:c.917T>C, NM_001110781.2:c.917T>C, NM_001110781.1:c.917T>C, NM_001290264.2:c.917T>C, NM_001290264.1:c.917T>C, NM_014854.1:c.917T>C, NP_001104251.1:p.Leu306Pro, NP_001277193.1:p.Leu306Pro

Select item 149042385119.

rs1490423851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1662347 (GRCh38)
1:1593808 (GRCh37)
Canonical SPDI:: NC_000001.11:1662346:C:T
Gene:: SLC35E2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.1662347C>T, NC_000001.10:g.1593808C>T, NG_034044.1:g.35458G>A, NM_001110781.3:c.*3435G>A, NM_001110781.2:c.*3435G>A, NM_001110781.1:c.*3413G>A, NM_001290264.2:c.*3435G>A, NM_001290264.1:c.*3435G>A, NM_014854.1:c.*3430G>A

Select item 149040815820.

rs1490408158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1661569 (GRCh38)
1:1593030 (GRCh37)
Canonical SPDI:: NC_000001.11:1661568:C:T
Gene:: SLC35E2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.1661569C>T, NC_000001.10:g.1593030C>T, NG_034044.1:g.36236G>A, NM_001110781.3:c.*4213G>A, NM_001110781.2:c.*4213G>A, NM_001110781.1:c.*4191G>A, NM_001290264.2:c.*4213G>A, NM_001290264.1:c.*4213G>A, NM_014854.1:c.*4208G>A

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