SNP Links for Gene (Select 83719) - SNP

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Items: 1 to 20 of 1629

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Select item 14902996311.

rs1490299631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:30097063 (GRCh38)
16:30108384 (GRCh37)
Canonical SPDI:: NC_000016.10:30097062:C:A,NC_000016.10:30097062:C:G
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30097063C>A, NC_000016.10:g.30097063C>G, NC_000016.9:g.30108384C>A, NC_000016.9:g.30108384C>G, NR_135192.1:n.634C>A, NR_135192.1:n.634C>G

Select item 14891150872.

rs1489115087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30092058 (GRCh38)
16:30103379 (GRCh37)
Canonical SPDI:: NC_000016.10:30092057:G:C
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30092058G>C, NC_000016.9:g.30103379G>C, NG_023283.1:g.4827C>G

Select item 14889537663.

rs1488953766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30092763 (GRCh38)
16:30104084 (GRCh37)
Canonical SPDI:: NC_000016.10:30092762:C:G
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30092763C>G, NC_000016.9:g.30104084C>G, NG_023283.1:g.4122G>C, NM_031477.5:c.421G>C, NM_031477.4:c.421G>C, NM_001145524.2:c.307G>C, NM_001145524.1:c.307G>C, NP_113665.3:p.Gly141Arg, NP_001138996.1:p.Gly103Arg

Select item 14885416134.

rs1488541613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30095505 (GRCh38)
16:30106826 (GRCh37)
Canonical SPDI:: NC_000016.10:30095504:G:A
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30095505G>A, NC_000016.9:g.30106826G>A, NG_023283.1:g.1380C>T, NM_031477.5:c.-23C>T, NM_031477.4:c.-23C>T

Select item 14884407525.

rs1488440752 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:30095504 (GRCh38)
16:30106825 (GRCh37)
Canonical SPDI:: NC_000016.10:30095503:GGGG:GGG
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30095507del, NC_000016.9:g.30106828del, NG_023283.1:g.1381del, NM_031477.5:c.-22del, NM_031477.4:c.-22del

Select item 14884324206.

rs1488432420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:30096214 (GRCh38)
16:30107535 (GRCh37)
Canonical SPDI:: NC_000016.10:30096213:A:C,NC_000016.10:30096213:A:T
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000016.10:g.30096214A>C, NC_000016.10:g.30096214A>T, NC_000016.9:g.30107535A>C, NC_000016.9:g.30107535A>T, NG_023283.1:g.671T>G, NG_023283.1:g.671T>A, NM_001145524.1:c.-184T>G, NM_001145524.1:c.-184T>A

Select item 14882356247.

rs1488235624 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:30092806 (GRCh38)
16:30104127 (GRCh37)
Canonical SPDI:: NC_000016.10:30092805:GG:G
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30092807del, NC_000016.9:g.30104128del, NG_023283.1:g.4079del

Select item 14873515358.

rs1487351535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30092468 (GRCh38)
16:30103789 (GRCh37)
Canonical SPDI:: NC_000016.10:30092467:G:A
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30092468G>A, NC_000016.9:g.30103789G>A, NG_023283.1:g.4417C>T, NM_031477.5:c.*242C>T, NM_031477.4:c.*242C>T, NM_001145524.2:c.*242C>T, NM_001145524.1:c.*242C>T

Select item 14870970799.

rs1487097079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30097937 (GRCh38)
16:30109258 (GRCh37)
Canonical SPDI:: NC_000016.10:30097936:T:G
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.30097937T>G, NC_000016.9:g.30109258T>G

Select item 148680706810.

rs1486807068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:30095653 (GRCh38)
16:30106974 (GRCh37)
Canonical SPDI:: NC_000016.10:30095652:G:A,NC_000016.10:30095652:G:C
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30095653G>A, NC_000016.10:g.30095653G>C, NC_000016.9:g.30106974G>A, NC_000016.9:g.30106974G>C, NG_023283.1:g.1232C>T, NG_023283.1:g.1232C>G, NM_031477.5:c.-171C>T, NM_031477.5:c.-171C>G, NM_031477.4:c.-171C>T, NM_031477.4:c.-171C>G

Select item 148666275511.

rs1486662755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:30093137 (GRCh38)
16:30104458 (GRCh37)
Canonical SPDI:: NC_000016.10:30093136:T:A
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.30093137T>A, NC_000016.9:g.30104458T>A, NG_023283.1:g.3748A>T

Select item 148604446912.

rs1486044469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30094060 (GRCh38)
16:30105381 (GRCh37)
Canonical SPDI:: NC_000016.10:30094059:C:G
Gene:: YPEL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30094060C>G, NC_000016.9:g.30105381C>G, NG_023283.1:g.2825G>C

Select item 148555580013.

rs1485555800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30097586 (GRCh38)
16:30108907 (GRCh37)
Canonical SPDI:: NC_000016.10:30097585:G:T
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30097586G>T, NC_000016.9:g.30108907G>T

Select item 148529377214.

rs1485293772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30093922 (GRCh38)
16:30105243 (GRCh37)
Canonical SPDI:: NC_000016.10:30093921:C:T
Gene:: TBX6 (Varview), YPEL3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.30093922C>T, NC_000016.9:g.30105243C>T, NG_023283.1:g.2963G>A

Select item 148518496015.

rs1485184960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:30096174 (GRCh38)
16:30107495 (GRCh37)
Canonical SPDI:: NC_000016.10:30096173:C:A,NC_000016.10:30096173:C:G,NC_000016.10:30096173:C:T
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30096174C>A, NC_000016.10:g.30096174C>G, NC_000016.10:g.30096174C>T, NC_000016.9:g.30107495C>A, NC_000016.9:g.30107495C>G, NC_000016.9:g.30107495C>T, NG_023283.1:g.711G>T, NG_023283.1:g.711G>C, NG_023283.1:g.711G>A, NM_031477.5:c.-692G>T, NM_031477.5:c.-692G>C, NM_031477.5:c.-692G>A, NM_031477.4:c.-692G>T, NM_031477.4:c.-692G>C, NM_031477.4:c.-692G>A, NM_001145524.2:c.-144G>T, NM_001145524.2:c.-144G>C, NM_001145524.2:c.-144G>A, NM_001145524.1:c.-144G>T, NM_001145524.1:c.-144G>C, NM_001145524.1:c.-144G>A

Select item 148517425516.

rs1485174255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30096938 (GRCh38)
16:30108259 (GRCh37)
Canonical SPDI:: NC_000016.10:30096937:C:T
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30096938C>T, NC_000016.9:g.30108259C>T, NR_135192.1:n.509C>T

Select item 148470530717.

rs1484705307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:30095630 (GRCh38)
16:30106951 (GRCh37)
Canonical SPDI:: NC_000016.10:30095629:A:C
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30095630A>C, NC_000016.9:g.30106951A>C, NG_023283.1:g.1255T>G, NM_031477.5:c.-148T>G, NM_031477.4:c.-148T>G

Select item 148442087118.

rs1484420871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30097893 (GRCh38)
16:30109214 (GRCh37)
Canonical SPDI:: NC_000016.10:30097892:G:A
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30097893G>A, NC_000016.9:g.30109214G>A

Select item 148430797519.

rs1484307975 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 16:30097219 (GRCh38)
16:30108540 (GRCh37)
Canonical SPDI:: NC_000016.10:30097218:C:
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30097219del, NC_000016.9:g.30108540del, NR_135192.1:n.790del

Select item 148379590920.

rs1483795909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30097584 (GRCh38)
16:30108905 (GRCh37)
Canonical SPDI:: NC_000016.10:30097583:G:A
Gene:: YPEL3 (Varview), YPEL3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.30097584G>A, NC_000016.9:g.30108905G>A

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