SNP Links for Gene (Select 57823) - SNP

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Select item 14913593291.

rs1491359329 has merged into rs60757043 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 1:160751879 (GRCh38)
1:160721669 (GRCh37)
Canonical SPDI:: NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:160751862:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.160751863TA[8], NC_000001.11:g.160751863TA[9], NC_000001.11:g.160751863TA[10], NC_000001.11:g.160751863TA[11], NC_000001.11:g.160751863TA[12], NC_000001.11:g.160751863TA[13], NC_000001.11:g.160751863TA[14], NC_000001.11:g.160751863TA[15], NC_000001.11:g.160751863TA[16], NC_000001.11:g.160751863TA[17], NC_000001.11:g.160751863TA[18], NC_000001.11:g.160751863TA[19], NC_000001.11:g.160751863TA[21], NC_000001.11:g.160751863TA[22], NC_000001.11:g.160751863TA[23], NC_000001.11:g.160751863TA[24], NC_000001.11:g.160751863TA[25], NC_000001.11:g.160751863TA[26], NC_000001.11:g.160751863TA[27], NC_000001.11:g.160751863TA[32], NC_000001.10:g.160721653TA[8], NC_000001.10:g.160721653TA[9], NC_000001.10:g.160721653TA[10], NC_000001.10:g.160721653TA[11], NC_000001.10:g.160721653TA[12], NC_000001.10:g.160721653TA[13], NC_000001.10:g.160721653TA[14], NC_000001.10:g.160721653TA[15], NC_000001.10:g.160721653TA[16], NC_000001.10:g.160721653TA[17], NC_000001.10:g.160721653TA[18], NC_000001.10:g.160721653TA[19], NC_000001.10:g.160721653TA[21], NC_000001.10:g.160721653TA[22], NC_000001.10:g.160721653TA[23], NC_000001.10:g.160721653TA[24], NC_000001.10:g.160721653TA[25], NC_000001.10:g.160721653TA[26], NC_000001.10:g.160721653TA[27], NC_000001.10:g.160721653TA[32]

Select item 14909827422.

rs1490982742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:160747056 (GRCh38)
1:160716846 (GRCh37)
Canonical SPDI:: NC_000001.11:160747055:A:T
Gene:: SLAMF7 (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_000001.11:g.160747056A>T, NC_000001.10:g.160716846A>T

Select item 14908043363.

rs1490804336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:160754942 (GRCh38)
1:160724732 (GRCh37)
Canonical SPDI:: NC_000001.11:160754941:T:G
Gene:: SLAMF7 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160754942T>G, NC_000001.10:g.160724732T>G

Select item 14906607054.

rs1490660705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:160751231 (GRCh38)
1:160721021 (GRCh37)
Canonical SPDI:: NC_000001.11:160751230:A:C,NC_000001.11:160751230:A:G
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160751231A>C, NC_000001.11:g.160751231A>G, NC_000001.10:g.160721021A>C, NC_000001.10:g.160721021A>G

Select item 14905645695.

rs1490564569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:160751409 (GRCh38)
1:160721199 (GRCh37)
Canonical SPDI:: NC_000001.11:160751408:T:A
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160751409T>A, NC_000001.10:g.160721199T>A, NM_021181.5:c.834T>A, NM_021181.4:c.834T>A, NM_021181.3:c.834T>A, NM_001282594.2:c.552T>A, NM_001282594.1:c.552T>A, NM_001282590.2:c.513T>A, NM_001282590.1:c.513T>A, NM_001282589.2:c.441T>A, NM_001282589.1:c.441T>A, NM_001282591.2:c.393T>A, NM_001282591.1:c.393T>A, XM_011509828.1:c.873T>A, NM_001282595.1:c.432T>A

Select item 14904403986.

rs1490440398 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:160740281 (GRCh38)
1:160710071 (GRCh37)
Canonical SPDI:: NC_000001.11:160740280:TTT:TT
Gene:: SLAMF7 (Varview), LOC124904440 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000001.11:g.160740283del, NC_000001.10:g.160710073del

Select item 14901633957.

rs1490163395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160738407 (GRCh38)
1:160708197 (GRCh37)
Canonical SPDI:: NC_000001.11:160738406:T:C
Gene:: SLAMF7 (Varview), LOC124904440 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.160738407T>C, NC_000001.10:g.160708197T>C

Select item 14900009998.

rs1490000999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:160738920 (GRCh38)
1:160708710 (GRCh37)
Canonical SPDI:: NC_000001.11:160738919:T:C,NC_000001.11:160738919:T:G
Gene:: SLAMF7 (Varview), LOC124904440 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160738920T>C, NC_000001.11:g.160738920T>G, NC_000001.10:g.160708710T>C, NC_000001.10:g.160708710T>G

Select item 14898370169.

rs1489837016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160746535 (GRCh38)
1:160716325 (GRCh37)
Canonical SPDI:: NC_000001.11:160746534:G:A
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160746535G>A, NC_000001.10:g.160716325G>A

Select item 148979177110.

rs1489791771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160753134 (GRCh38)
1:160722924 (GRCh37)
Canonical SPDI:: NC_000001.11:160753133:T:C
Gene:: SLAMF7 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160753134T>C, NC_000001.10:g.160722924T>C, NM_021181.5:c.965T>C, NM_021181.4:c.965T>C, NM_021181.3:c.965T>C, NM_001282592.2:c.861T>C, NM_001282592.1:c.861T>C, NM_001282594.2:c.683T>C, NM_001282594.1:c.683T>C, NM_001282590.2:c.644T>C, NM_001282590.1:c.644T>C, NM_001282589.2:c.572T>C, NM_001282589.1:c.572T>C, NM_001282596.2:c.540T>C, NM_001282596.1:c.540T>C, NM_001282591.2:c.524T>C, NM_001282591.1:c.524T>C, NM_001282588.2:c.468T>C, NM_001282588.1:c.468T>C, NM_001282593.2:c.420T>C, NM_001282593.1:c.420T>C, XM_011509828.1:c.1004T>C, XM_011509829.1:c.900T>C, NM_001282595.1:c.563T>C, XM_047426359.1:c.579T>C, NP_067004.3:p.Met322Thr, NP_001269523.1:p.Met228Thr, NP_001269519.1:p.Met215Thr, NP_001269518.1:p.Met191Thr, NP_001269520.1:p.Met175Thr, XP_011508130.1:p.Met335Thr, NP_001269524.1:p.Met188Thr

Select item 148969967111.

rs1489699671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:160754147 (GRCh38)
1:160723937 (GRCh37)
Canonical SPDI:: NC_000001.11:160754146:A:C
Gene:: SLAMF7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000486/9 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000057/8 (GnomAD)
C=0.002009/9 (Estonian)
HGVS:: NC_000001.11:g.160754147A>C, NC_000001.10:g.160723937A>C, NM_021181.5:c.*970A>C, NM_021181.4:c.*970A>C, NM_021181.3:c.*970A>C, NM_001282592.2:c.*983A>C, NM_001282592.1:c.*983A>C, NM_001282594.2:c.*970A>C, NM_001282594.1:c.*970A>C, NM_001282590.2:c.*970A>C, NM_001282590.1:c.*970A>C, NM_001282589.2:c.*970A>C, NM_001282589.1:c.*970A>C, NM_001282596.2:c.*983A>C, NM_001282596.1:c.*983A>C, NM_001282591.2:c.*970A>C, NM_001282591.1:c.*970A>C, NM_001282588.2:c.*983A>C, NM_001282588.1:c.*983A>C, NM_001282593.2:c.*983A>C, NM_001282593.1:c.*983A>C, XM_011509828.1:c.*970A>C, XM_011509829.1:c.*983A>C, NM_001282595.1:c.*970A>C, XM_047426359.1:c.*983A>C

Select item 148960489312.

rs1489604893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:160747694 (GRCh38)
1:160717484 (GRCh37)
Canonical SPDI:: NC_000001.11:160747693:G:A,NC_000001.11:160747693:G:T
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160747694G>A, NC_000001.11:g.160747694G>T, NC_000001.10:g.160717484G>A, NC_000001.10:g.160717484G>T

Select item 148956388013.

rs1489563880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:160748939 (GRCh38)
1:160718729 (GRCh37)
Canonical SPDI:: NC_000001.11:160748938:A:C
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160748939A>C, NC_000001.10:g.160718729A>C

Select item 148948820014.

rs1489488200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:160740261 (GRCh38)
1:160710051 (GRCh37)
Canonical SPDI:: NC_000001.11:160740260:G:A,NC_000001.11:160740260:G:T
Gene:: SLAMF7 (Varview), LOC124904440 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160740261G>A, NC_000001.11:g.160740261G>T, NC_000001.10:g.160710051G>A, NC_000001.10:g.160710051G>T

Select item 148937241615.

rs1489372416 has merged into rs1284159294 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 1:160751903 (GRCh38)
1:160721693 (GRCh37)
Canonical SPDI:: NC_000001.11:160751901:ACACACACA:A,NC_000001.11:160751901:ACACACACA:ACACA,NC_000001.11:160751901:ACACACACA:ACACACA,NC_000001.11:160751901:ACACACACA:ACACACACACA,NC_000001.11:160751901:ACACACACA:ACACACACACACA
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.160751903_160751910del, NC_000001.11:g.160751903CA[2], NC_000001.11:g.160751903CA[3], NC_000001.11:g.160751903CA[5], NC_000001.11:g.160751903CA[6], NC_000001.10:g.160721693_160721700del, NC_000001.10:g.160721693CA[2], NC_000001.10:g.160721693CA[3], NC_000001.10:g.160721693CA[5], NC_000001.10:g.160721693CA[6]

Select item 148890690216.

rs1488906902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:160746031 (GRCh38)
1:160715821 (GRCh37)
Canonical SPDI:: NC_000001.11:160746030:T:C,NC_000001.11:160746030:T:G
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.160746031T>C, NC_000001.11:g.160746031T>G, NC_000001.10:g.160715821T>C, NC_000001.10:g.160715821T>G

Select item 148870133117.

rs1488701331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160737188 (GRCh38)
1:160706978 (GRCh37)
Canonical SPDI:: NC_000001.11:160737187:G:A
Gene:: SLAMF7 (Varview), LOC124904440 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.160737188G>A, NC_000001.10:g.160706978G>A

Select item 148825122118.

rs1488251221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160745096 (GRCh38)
1:160714886 (GRCh37)
Canonical SPDI:: NC_000001.11:160745095:T:C
Gene:: SLAMF7 (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_000001.11:g.160745096T>C, NC_000001.10:g.160714886T>C

Select item 148803645519.

rs1488036455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:160739234 (GRCh38)
1:160709024 (GRCh37)
Canonical SPDI:: NC_000001.11:160739233:G:C,NC_000001.11:160739233:G:T
Gene:: SLAMF7 (Varview), LOC124904440 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160739234G>C, NC_000001.11:g.160739234G>T, NC_000001.10:g.160709024G>C, NC_000001.10:g.160709024G>T, NM_021181.4:c.-68G>C, NM_021181.4:c.-68G>T, NM_001282592.1:c.-68G>C, NM_001282592.1:c.-68G>T, NM_001282594.1:c.-68G>C, NM_001282594.1:c.-68G>T, NM_001282590.1:c.-68G>C, NM_001282590.1:c.-68G>T, NM_001282589.1:c.-68G>C, NM_001282589.1:c.-68G>T, NM_001282596.1:c.-68G>C, NM_001282596.1:c.-68G>T, NM_001282591.1:c.-68G>C, NM_001282591.1:c.-68G>T, NM_001282588.1:c.-68G>C, NM_001282588.1:c.-68G>T, NM_001282593.1:c.-68G>C, NM_001282593.1:c.-68G>T

Select item 148753896120.

rs1487538961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:160751885 (GRCh38)
1:160721675 (GRCh37)
Canonical SPDI:: NC_000001.11:160751884:T:C,NC_000001.11:160751884:T:G
Gene:: SLAMF7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00006/1 (TOMMO)
C=0.00583/11 (KOREAN)
HGVS:: NC_000001.11:g.160751885T>C, NC_000001.11:g.160751885T>G, NC_000001.10:g.160721675T>C, NC_000001.10:g.160721675T>G

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