SNP Links for Gene (Select 56833) - SNP

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Select item 14912562271.

rs1491256227 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:159828845 (GRCh38)
1:159798635 (GRCh37)
Canonical SPDI:: NC_000001.11:159828844:AG:
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.159828845_159828846del, NC_000001.10:g.159798635_159798636del

Select item 14909689792.

rs1490968979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:159824762 (GRCh38)
1:159794552 (GRCh37)
Canonical SPDI:: NC_000001.11:159824761:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159824762A>G, NC_000001.10:g.159794552A>G

Select item 14906355383.

rs1490635538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:159830438 (GRCh38)
1:159800228 (GRCh37)
Canonical SPDI:: NC_000001.11:159830437:T:C
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.159830438T>C, NC_000001.10:g.159800228T>C

Select item 14900908514.

rs1490090851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159831072 (GRCh38)
1:159800862 (GRCh37)
Canonical SPDI:: NC_000001.11:159831071:C:T
Gene:: SLAMF8 (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)
T=0.000531/9 (TOMMO)
HGVS:: NC_000001.11:g.159831072C>T, NC_000001.10:g.159800862C>T

Select item 14900232005.

rs1490023200 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:159837863 (GRCh38)
1:159807653 (GRCh37)
Canonical SPDI:: NC_000001.11:159837862:A:
Gene:: SLAMF8 (Varview), SNHG28 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159837863del, NC_000001.10:g.159807653del

Select item 14894985016.

rs1489498501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:159829791 (GRCh38)
1:159799581 (GRCh37)
Canonical SPDI:: NC_000001.11:159829790:T:C
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.159829791T>C, NC_000001.10:g.159799581T>C

Select item 14894075307.

rs1489407530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:159830587 (GRCh38)
1:159800377 (GRCh37)
Canonical SPDI:: NC_000001.11:159830586:A:C
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.159830587A>C, NC_000001.10:g.159800377A>C

Select item 14892827978.

rs1489282797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:159836691 (GRCh38)
1:159806481 (GRCh37)
Canonical SPDI:: NC_000001.11:159836690:T:C,NC_000001.11:159836690:T:G
Gene:: SLAMF8 (Varview), SNHG28 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159836691T>C, NC_000001.11:g.159836691T>G, NC_000001.10:g.159806481T>C, NC_000001.10:g.159806481T>G, XM_011509777.4:c.*2460T>C, XM_011509777.4:c.*2460T>G, XM_011509777.3:c.*2460T>C, XM_011509777.3:c.*2460T>G, XM_011509777.2:c.*2460T>C, XM_011509777.2:c.*2460T>G, XM_017001844.3:c.*2376T>C, XM_017001844.3:c.*2376T>G, XM_017001844.2:c.*2376T>C, XM_017001844.2:c.*2376T>G, XM_017001844.1:c.*2376T>C, XM_017001844.1:c.*2376T>G, XM_017001845.3:c.*1431T>C, XM_017001845.3:c.*1431T>G, NM_020125.3:c.*1431T>C, NM_020125.3:c.*1431T>G, NM_020125.2:c.*1431T>C, NM_020125.2:c.*1431T>G, XM_017001846.2:c.*1431T>C, XM_017001846.2:c.*1431T>G, XM_017001846.1:c.*1431T>C, XM_017001846.1:c.*1431T>G, NM_001330741.2:c.*1431T>C, NM_001330741.2:c.*1431T>G, NM_001330741.1:c.*1431T>C, NM_001330741.1:c.*1431T>G, NM_014036.1:c.*1031T>C, NM_014036.1:c.*1031T>G

Select item 14892700389.

rs1489270038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:159837336 (GRCh38)
1:159807126 (GRCh37)
Canonical SPDI:: NC_000001.11:159837335:T:C
Gene:: SLAMF8 (Varview), SNHG28 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_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_000001.11:g.159837336T>C, NC_000001.10:g.159807126T>C, XM_005245345.4:c.*25T>C, XM_005245345.3:c.*25T>C, XM_005245345.2:c.*25T>C, XM_005245345.1:c.*25T>C, XM_017001845.3:c.*2076T>C, NM_020125.3:c.*2076T>C, NM_020125.2:c.*2076T>C, XM_011509775.3:c.*25T>C, XM_011509775.2:c.*25T>C, XM_011509775.1:c.*25T>C, XM_011509776.3:c.*25T>C, XM_011509776.2:c.*25T>C, XM_011509776.1:c.*25T>C, XM_011509778.3:c.*25T>C, XM_011509778.2:c.*25T>C, XM_011509778.1:c.*25T>C, XM_011509779.3:c.*25T>C, XM_011509779.2:c.*25T>C, XM_011509779.1:c.*25T>C, XM_017001846.2:c.*2076T>C, NM_001330741.2:c.*2076T>C, NM_001330741.1:c.*2076T>C, NM_014036.1:c.*1676T>C

Select item 148885663610.

rs1488856636 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:159832392 (GRCh38)
1:159802182 (GRCh37)
Canonical SPDI:: NC_000001.11:159832389:ATAT:AT
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159832390AT[1], NC_000001.10:g.159802180AT[1]

Select item 148851959411.

rs1488519594 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:159829370 (GRCh38)
1:159799160 (GRCh37)
Canonical SPDI:: NC_000001.11:159829366:CTCCTC:CTC
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.159829367CTC[1], NC_000001.10:g.159799157CTC[1]

Select item 148843589912.

rs1488435899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159826929 (GRCh38)
1:159796719 (GRCh37)
Canonical SPDI:: NC_000001.11:159826928:C:T
Gene:: SLAMF8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.159826929C>T, NC_000001.10:g.159796719C>T, XM_011509777.4:c.31C>T, XM_011509777.3:c.31C>T, XM_011509777.2:c.31C>T, XM_011509777.1:c.31C>T, XM_005245345.4:c.31C>T, XM_005245345.3:c.31C>T, XM_005245345.2:c.31C>T, XM_005245345.1:c.31C>T, XM_017001844.3:c.31C>T, XM_017001844.2:c.31C>T, XM_017001844.1:c.31C>T, XM_017001845.3:c.31C>T, XM_017001845.2:c.31C>T, XM_017001845.1:c.31C>T, NM_020125.3:c.31C>T, NM_020125.2:c.31C>T, XM_011509775.3:c.31C>T, XM_011509775.2:c.31C>T, XM_011509775.1:c.31C>T, XM_011509776.3:c.31C>T, XM_011509776.2:c.31C>T, XM_011509776.1:c.31C>T, XM_011509778.3:c.31C>T, XM_011509778.2:c.31C>T, XM_011509778.1:c.31C>T, XM_011509779.3:c.31C>T, XM_011509779.2:c.31C>T, XM_011509779.1:c.31C>T, XM_017001846.2:c.31C>T, XM_017001846.1:c.31C>T, NM_001330741.2:c.31C>T, NM_001330741.1:c.31C>T, XP_011508079.1:p.Leu11Phe, XP_005245402.1:p.Leu11Phe, XP_016857333.1:p.Leu11Phe, XP_016857334.1:p.Leu11Phe, NP_064510.1:p.Leu11Phe, XP_011508077.1:p.Leu11Phe, XP_011508078.1:p.Leu11Phe, XP_011508080.1:p.Leu11Phe, XP_011508081.1:p.Leu11Phe, XP_016857335.1:p.Leu11Phe, NP_001317670.1:p.Leu11Phe

Select item 148816367213.

rs1488163672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:159830013 (GRCh38)
1:159799803 (GRCh37)
Canonical SPDI:: NC_000001.11:159830012:T:C
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159830013T>C, NC_000001.10:g.159799803T>C, XM_011509777.4:c.188T>C, XM_011509777.3:c.188T>C, XM_011509777.2:c.188T>C, XM_011509777.1:c.188T>C, XM_005245345.4:c.188T>C, XM_005245345.3:c.188T>C, XM_005245345.2:c.188T>C, XM_005245345.1:c.188T>C, XM_017001844.3:c.188T>C, XM_017001844.2:c.188T>C, XM_017001844.1:c.188T>C, XM_017001845.3:c.188T>C, XM_017001845.2:c.188T>C, XM_017001845.1:c.188T>C, NM_020125.3:c.188T>C, NM_020125.2:c.188T>C, XM_011509775.3:c.188T>C, XM_011509775.2:c.188T>C, XM_011509775.1:c.188T>C, XM_011509776.3:c.170T>C, XM_011509776.2:c.170T>C, XM_011509776.1:c.170T>C, XM_011509778.3:c.59T>C, XM_011509778.2:c.59T>C, XM_011509778.1:c.59T>C, XM_017001846.2:c.170T>C, XM_017001846.1:c.170T>C, XP_011508079.1:p.Phe63Ser, XP_005245402.1:p.Phe63Ser, XP_016857333.1:p.Phe63Ser, XP_016857334.1:p.Phe63Ser, NP_064510.1:p.Phe63Ser, XP_011508077.1:p.Phe63Ser, XP_011508078.1:p.Phe57Ser, XP_011508080.1:p.Phe20Ser, XP_016857335.1:p.Phe57Ser

Select item 148770210914.

rs1487702109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159825951 (GRCh38)
1:159795741 (GRCh37)
Canonical SPDI:: NC_000001.11:159825950:C:T
Gene:: SLAMF8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.159825951C>T, NC_000001.10:g.159795741C>T

Select item 148754571115.

rs1487545711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159834527 (GRCh38)
1:159804317 (GRCh37)
Canonical SPDI:: NC_000001.11:159834526:C:T
Gene:: SLAMF8 (Varview), SNHG28 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.159834527C>T, NC_000001.10:g.159804317C>T, XM_011509777.4:c.*296C>T, XM_011509777.3:c.*296C>T, XM_011509777.2:c.*296C>T, XM_017001844.3:c.*212C>T, XM_017001844.2:c.*212C>T, XM_017001844.1:c.*212C>T, NM_001134233.1:c.*1630G>A, NR_147125.1:n.2287G>A, NR_147122.1:n.2131G>A, NR_147124.1:n.2021G>A, NR_147123.1:n.1966G>A

Select item 148748011616.

rs1487480116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:159835420 (GRCh38)
1:159805210 (GRCh37)
Canonical SPDI:: NC_000001.11:159835419:C:T
Gene:: SLAMF8 (Varview), SNHG28 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.159835420C>T, NC_000001.10:g.159805210C>T, XM_011509777.4:c.*1189C>T, XM_011509777.3:c.*1189C>T, XM_011509777.2:c.*1189C>T, XM_017001844.3:c.*1105C>T, XM_017001844.2:c.*1105C>T, XM_017001844.1:c.*1105C>T, XM_017001845.3:c.*160C>T, NM_020125.3:c.*160C>T, NM_020125.2:c.*160C>T, XM_017001846.2:c.*160C>T, XM_017001846.1:c.*160C>T, NM_001330741.2:c.*160C>T, NM_001330741.1:c.*160C>T, NM_001134233.1:c.*737G>A, NM_014036.1:c.222C>T, NR_147125.1:n.1394G>A, NR_147122.1:n.1238G>A, NR_147124.1:n.1128G>A, NR_147123.1:n.1073G>A

Select item 148692605617.

rs1486926056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:159831466 (GRCh38)
1:159801256 (GRCh37)
Canonical SPDI:: NC_000001.11:159831465:T:C,NC_000001.11:159831465:T:G
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03001/356 (ALFA)
C=0.0178/52 (KOREAN)
HGVS:: NC_000001.11:g.159831466T>C, NC_000001.11:g.159831466T>G, NC_000001.10:g.159801256T>C, NC_000001.10:g.159801256T>G

Select item 148687072618.

rs1486870726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:159830211 (GRCh38)
1:159800001 (GRCh37)
Canonical SPDI:: NC_000001.11:159830210:G:A
Gene:: SLAMF8 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.159830211G>A, NC_000001.10:g.159800001G>A

Select item 148676035719.

rs1486760357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:159834867 (GRCh38)
1:159804657 (GRCh37)
Canonical SPDI:: NC_000001.11:159834866:G:A
Gene:: SLAMF8 (Varview), SNHG28 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.159834867G>A, NC_000001.10:g.159804657G>A, XM_011509777.4:c.*636G>A, XM_011509777.3:c.*636G>A, XM_011509777.2:c.*636G>A, XM_017001844.3:c.*552G>A, XM_017001844.2:c.*552G>A, XM_017001844.1:c.*552G>A, NM_001134233.1:c.*1290C>T, NR_147125.1:n.1947C>T, NR_147122.1:n.1791C>T, NR_147124.1:n.1681C>T, NR_147123.1:n.1626C>T

Select item 148669183820.

rs1486691838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:159835782 (GRCh38)
1:159805572 (GRCh37)
Canonical SPDI:: NC_000001.11:159835781:A:T
Gene:: SLAMF8 (Varview), SNHG28 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.159835782A>T, NC_000001.10:g.159805572A>T, XM_011509777.4:c.*1551A>T, XM_011509777.3:c.*1551A>T, XM_011509777.2:c.*1551A>T, XM_017001844.3:c.*1467A>T, XM_017001844.2:c.*1467A>T, XM_017001844.1:c.*1467A>T, XM_017001845.3:c.*522A>T, NM_020125.3:c.*522A>T, NM_020125.2:c.*522A>T, XM_017001846.2:c.*522A>T, XM_017001846.1:c.*522A>T, NM_001330741.2:c.*522A>T, NM_001330741.1:c.*522A>T, NM_001134233.1:c.*375T>A, NM_014036.1:c.*119A>T, NR_147125.1:n.1032T>A, NR_147122.1:n.876T>A, NR_147124.1:n.766T>A, NR_147123.1:n.711T>A

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