SNP Links for Gene (Select 101927597) - SNP

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Select item 14913040801.

rs1491304080 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:136841734 (GRCh38)
3:136560576 (GRCh37)
Canonical SPDI:: NC_000003.12:136841731:AAAA:AA
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00007/6 (GnomAD)
HGVS:: NC_000003.12:g.136841734_136841735del, NC_000003.11:g.136560576_136560577del

Select item 14911452272.

rs1491145227 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:136844797 (GRCh38)
3:136563639 (GRCh37)
Canonical SPDI:: NC_000003.12:136844796:CA:
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.136844797_136844798del, NC_000003.11:g.136563639_136563640del

Select item 14910999443.

rs1491099944 has merged into rs10691819 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAATAAATAAATAAATAAATAAATA>-,AATAAATA,AATAAATAAATA,AATAAATAAATAAATA,AATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,AATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA [Show Flanks]
Chromosome:: 3:136841750 (GRCh38)
3:136560592 (GRCh37)
Canonical SPDI:: NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,NC_000003.12:136841732:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAATAAATA=0./0 (ALFA)
AAATAAAT=0.1777/890 (1000Genomes)
HGVS:: NC_000003.12:g.136841734AATA[4], NC_000003.12:g.136841734AATA[6], NC_000003.12:g.136841734AATA[7], NC_000003.12:g.136841734AATA[8], NC_000003.12:g.136841734AATA[9], NC_000003.12:g.136841734AATA[10], NC_000003.12:g.136841734AATA[12], NC_000003.12:g.136841734AATA[13], NC_000003.12:g.136841734AATA[14], NC_000003.12:g.136841734AATA[15], NC_000003.12:g.136841734AATA[16], NC_000003.11:g.136560576AATA[4], NC_000003.11:g.136560576AATA[6], NC_000003.11:g.136560576AATA[7], NC_000003.11:g.136560576AATA[8], NC_000003.11:g.136560576AATA[9], NC_000003.11:g.136560576AATA[10], NC_000003.11:g.136560576AATA[12], NC_000003.11:g.136560576AATA[13], NC_000003.11:g.136560576AATA[14], NC_000003.11:g.136560576AATA[15], NC_000003.11:g.136560576AATA[16]

Select item 14910419844.

rs1491041984 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:136847312 (GRCh38)
3:136566154 (GRCh37)
Canonical SPDI:: NC_000003.12:136847311:TA:
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.136847312_136847313del, NC_000003.11:g.136566154_136566155del

Select item 14910136315.

rs1491013631 has merged into rs36115986 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:136843336 (GRCh38)
3:136562178 (GRCh37)
Canonical SPDI:: NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136843322:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.136843336_136843351del, NC_000003.12:g.136843337_136843351del, NC_000003.12:g.136843338_136843351del, NC_000003.12:g.136843339_136843351del, NC_000003.12:g.136843340_136843351del, NC_000003.12:g.136843341_136843351del, NC_000003.12:g.136843342_136843351del, NC_000003.12:g.136843343_136843351del, NC_000003.12:g.136843344_136843351del, NC_000003.12:g.136843345_136843351del, NC_000003.12:g.136843346_136843351del, NC_000003.12:g.136843347_136843351del, NC_000003.12:g.136843348_136843351del, NC_000003.12:g.136843349_136843351del, NC_000003.12:g.136843350_136843351del, NC_000003.12:g.136843351del, NC_000003.12:g.136843351dup, NC_000003.12:g.136843350_136843351dup, NC_000003.12:g.136843349_136843351dup, NC_000003.12:g.136843348_136843351dup, NC_000003.12:g.136843347_136843351dup, NC_000003.12:g.136843346_136843351dup, NC_000003.12:g.136843344_136843351dup, NC_000003.12:g.136843343_136843351dup, NC_000003.12:g.136843342_136843351dup, NC_000003.11:g.136562178_136562193del, NC_000003.11:g.136562179_136562193del, NC_000003.11:g.136562180_136562193del, NC_000003.11:g.136562181_136562193del, NC_000003.11:g.136562182_136562193del, NC_000003.11:g.136562183_136562193del, NC_000003.11:g.136562184_136562193del, NC_000003.11:g.136562185_136562193del, NC_000003.11:g.136562186_136562193del, NC_000003.11:g.136562187_136562193del, NC_000003.11:g.136562188_136562193del, NC_000003.11:g.136562189_136562193del, NC_000003.11:g.136562190_136562193del, NC_000003.11:g.136562191_136562193del, NC_000003.11:g.136562192_136562193del, NC_000003.11:g.136562193del, NC_000003.11:g.136562193dup, NC_000003.11:g.136562192_136562193dup, NC_000003.11:g.136562191_136562193dup, NC_000003.11:g.136562190_136562193dup, NC_000003.11:g.136562189_136562193dup, NC_000003.11:g.136562188_136562193dup, NC_000003.11:g.136562186_136562193dup, NC_000003.11:g.136562185_136562193dup, NC_000003.11:g.136562184_136562193dup

Select item 14909947356.

rs1490994735 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:136849471 (GRCh38)
3:136568313 (GRCh37)
Canonical SPDI:: NC_000003.12:136849470:AC:
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0083/37 (ALFA)
HGVS:: NC_000003.12:g.136849471_136849472del, NC_000003.11:g.136568313_136568314del

Select item 14908593397.

rs1490859339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:136844705 (GRCh38)
3:136563547 (GRCh37)
Canonical SPDI:: NC_000003.12:136844704:C:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.136844705C>A, NC_000003.11:g.136563547C>A

Select item 14905040578.

rs1490504057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:136850465 (GRCh38)
3:136569307 (GRCh37)
Canonical SPDI:: NC_000003.12:136850464:C:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.136850465C>A, NC_000003.11:g.136569307C>A, XM_006713773.5:c.-3823C>A, XM_006713773.4:c.-3823C>A, XM_047449027.1:c.-3810C>A

Select item 14904475319.

rs1490447531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136861025 (GRCh38)
3:136579867 (GRCh37)
Canonical SPDI:: NC_000003.12:136861024:G:A
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.136861025G>A, NC_000003.11:g.136579867G>A

Select item 149033922810.

rs1490339228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:136845894 (GRCh38)
3:136564737 (GRCh37)
Canonical SPDI:: NC_000003.12:136845894:T:TT
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.136845895dup, NC_000003.11:g.136564737dup

Select item 149028572411.

rs1490285724 has merged into rs565915582 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAGGCAGGTTAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:136861498 (GRCh38)
3:136580340 (GRCh37)
Canonical SPDI:: NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:136861488:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAGGCAGGTTAAAAAAAAAAAAAAAAAA
Gene:: NCK1 (Varview), NCK1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000003.12:g.136861498_136861504del, NC_000003.12:g.136861499_136861504del, NC_000003.12:g.136861500_136861504del, NC_000003.12:g.136861501_136861504del, NC_000003.12:g.136861502_136861504del, NC_000003.12:g.136861503_136861504del, NC_000003.12:g.136861504del, NC_000003.12:g.136861504dup, NC_000003.12:g.136861503_136861504dup, NC_000003.12:g.136861502_136861504dup, NC_000003.12:g.136861501_136861504dup, NC_000003.12:g.136861500_136861504dup, NC_000003.12:g.136861499_136861504dup, NC_000003.12:g.136861498_136861504dup, NC_000003.12:g.136861497_136861504dup, NC_000003.12:g.136861496_136861504dup, NC_000003.12:g.136861495_136861504dup, NC_000003.12:g.136861494_136861504dup, NC_000003.12:g.136861493_136861504dup, NC_000003.12:g.136861492_136861504dup, NC_000003.12:g.136861489_136861504A[24]GAGGCAGGTTAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.136580340_136580346del, NC_000003.11:g.136580341_136580346del, NC_000003.11:g.136580342_136580346del, NC_000003.11:g.136580343_136580346del, NC_000003.11:g.136580344_136580346del, NC_000003.11:g.136580345_136580346del, NC_000003.11:g.136580346del, NC_000003.11:g.136580346dup, NC_000003.11:g.136580345_136580346dup, NC_000003.11:g.136580344_136580346dup, NC_000003.11:g.136580343_136580346dup, NC_000003.11:g.136580342_136580346dup, NC_000003.11:g.136580341_136580346dup, NC_000003.11:g.136580340_136580346dup, NC_000003.11:g.136580339_136580346dup, NC_000003.11:g.136580338_136580346dup, NC_000003.11:g.136580337_136580346dup, NC_000003.11:g.136580336_136580346dup, NC_000003.11:g.136580335_136580346dup, NC_000003.11:g.136580334_136580346dup, NC_000003.11:g.136580331_136580346A[24]GAGGCAGGTTAAAAAAAAAAAAAAAAAA[1]

Select item 149004272112.

rs1490042721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136844962 (GRCh38)
3:136563804 (GRCh37)
Canonical SPDI:: NC_000003.12:136844961:G:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.136844962G>A, NC_000003.11:g.136563804G>A

Select item 148989528513.

rs1489895285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:136845380 (GRCh38)
3:136564222 (GRCh37)
Canonical SPDI:: NC_000003.12:136845379:C:T
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000003.12:g.136845380C>T, NC_000003.11:g.136564222C>T

Select item 148972105114.

rs1489721051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:136854195 (GRCh38)
3:136573037 (GRCh37)
Canonical SPDI:: NC_000003.12:136854194:G:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.136854195G>A, NC_000003.11:g.136573037G>A, XM_006713773.5:c.-93G>A, XM_006713773.4:c.-93G>A, XM_006713773.3:c.-93G>A, XM_006713773.2:c.-93G>A, XM_006713773.1:c.-93G>A, XM_047449027.1:c.-80G>A

Select item 148968150315.

rs1489681503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:136853067 (GRCh38)
3:136571909 (GRCh37)
Canonical SPDI:: NC_000003.12:136853066:C:T
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.136853067C>T, NC_000003.11:g.136571909C>T, XM_006713773.5:c.-1221C>T, XM_006713773.4:c.-1221C>T, XM_006713773.3:c.-1221C>T, XM_047449027.1:c.-1208C>T

Select item 148961877016.

rs1489618770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:136854042 (GRCh38)
3:136572884 (GRCh37)
Canonical SPDI:: NC_000003.12:136854041:T:C
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.136854042T>C, NC_000003.11:g.136572884T>C, XM_006713773.5:c.-246T>C, XM_006713773.4:c.-246T>C, XM_006713773.3:c.-246T>C, XM_006713773.2:c.-246T>C, XM_006713773.1:c.-246T>C, XM_047449027.1:c.-233T>C

Select item 148956345517.

rs1489563455 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGG>- [Show Flanks]
Chromosome:: 3:136843191 (GRCh38)
3:136562033 (GRCh37)
Canonical SPDI:: NC_000003.12:136843183:GTGGTGGTGG:GTGGTGG
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGGTGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.136843185TGG[2], NC_000003.11:g.136562027TGG[2]

Select item 148929487218.

rs1489294872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:136854553 (GRCh38)
3:136573395 (GRCh37)
Canonical SPDI:: NC_000003.12:136854552:C:T
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000003.12:g.136854553C>T, NC_000003.11:g.136573395C>T, XM_006713773.5:c.93C>T, XM_006713773.4:c.93C>T, XM_006713773.3:c.93C>T, XM_006713773.2:c.93C>T, XM_006713773.1:c.93C>T, XM_011513214.3:c.93C>T, XM_011513214.2:c.93C>T, XM_011513214.1:c.93C>T, NM_025246.3:c.93C>T, NM_025246.2:c.93C>T, XM_017007290.2:c.93C>T, XM_017007290.1:c.93C>T, NM_001097599.2:c.93C>T, NM_001097599.1:c.93C>T, NM_001097600.2:c.93C>T, NM_001097600.1:c.93C>T, XM_017007291.2:c.93C>T, XM_017007291.1:c.93C>T, XM_017007289.2:c.93C>T, XM_017007289.1:c.93C>T, XM_047449027.1:c.93C>T

Select item 148925156119.

rs1489251561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:136854715 (GRCh38)
3:136573557 (GRCh37)
Canonical SPDI:: NC_000003.12:136854714:T:A
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.136854715T>A, NC_000003.11:g.136573557T>A, XM_006713773.5:c.255T>A, XM_006713773.4:c.255T>A, XM_006713773.3:c.255T>A, XM_006713773.2:c.255T>A, XM_006713773.1:c.255T>A, XM_011513214.3:c.255T>A, XM_011513214.2:c.255T>A, XM_011513214.1:c.255T>A, NM_025246.3:c.255T>A, NM_025246.2:c.255T>A, XM_017007290.2:c.255T>A, XM_017007290.1:c.255T>A, NM_001097599.2:c.255T>A, NM_001097599.1:c.255T>A, NM_001097600.2:c.255T>A, NM_001097600.1:c.255T>A, XM_017007291.2:c.255T>A, XM_017007291.1:c.255T>A, XM_017007289.2:c.255T>A, XM_017007289.1:c.255T>A, XM_047449027.1:c.255T>A, XP_006713836.1:p.Asn85Lys, XP_011511516.1:p.Asn85Lys, NP_079522.2:p.Asn85Lys, XP_016862779.1:p.Asn85Lys, NP_001091068.1:p.Asn85Lys, NP_001091069.1:p.Asn85Lys, XP_016862780.1:p.Asn85Lys, XP_016862778.1:p.Asn85Lys, XP_047304983.1:p.Asn85Lys

Select item 148924077320.

rs1489240773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:136846385 (GRCh38)
3:136565227 (GRCh37)
Canonical SPDI:: NC_000003.12:136846384:T:C
Gene:: SLC35G2 (Varview), NCK1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.136846385T>C, NC_000003.11:g.136565227T>C

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