SNP Links for Gene (Select 64789) - SNP - NCBI

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Select item 14910655141.

rs1491065514 has merged into rs11292573 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:40510204 (GRCh38)
1:40975876 (GRCh37)
Canonical SPDI:: NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: EXO5 (Varview), EXO5-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.0003/2 (ALFA)
-=0.4954/1832 (1000Genomes)
HGVS:: NC_000001.11:g.40510204_40510205del, NC_000001.11:g.40510205del, NC_000001.11:g.40510205dup, NC_000001.11:g.40510204_40510205dup, NC_000001.11:g.40510203_40510205dup, NC_000001.11:g.40510200_40510205dup, NC_000001.11:g.40510205_40510206insTTTTTTTTTTTT, NC_000001.10:g.40975876_40975877del, NC_000001.10:g.40975877del, NC_000001.10:g.40975877dup, NC_000001.10:g.40975876_40975877dup, NC_000001.10:g.40975875_40975877dup, NC_000001.10:g.40975872_40975877dup, NC_000001.10:g.40975877_40975878insTTTTTTTTTTTT

Select item 14910090412.

rs1491009041 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:40514786 (GRCh38)
1:40980459 (GRCh37)
Canonical SPDI:: NC_000001.11:40514786:A:AA
Gene:: EXO5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.40514787dup, NC_000001.10:g.40980459dup, XM_017002102.3:c.243dup, XM_017002102.2:c.243dup, XM_017002102.1:c.243dup, XM_017002099.3:c.243dup, XM_017002099.2:c.243dup, XM_017002099.1:c.243dup, NM_022774.3:c.243dup, NM_022774.2:c.243dup, NM_022774.1:c.243dup, NM_001346946.2:c.243dup, NM_001346946.1:c.243dup, NM_001346953.2:c.243dup, NM_001346953.1:c.243dup, NM_001346947.2:c.243dup, NM_001346947.1:c.243dup, NM_001346950.2:c.243dup, NM_001346950.1:c.243dup, NM_001346949.2:c.243dup, NM_001346949.1:c.243dup, NM_001346955.2:c.243dup, NM_001346955.1:c.243dup, NM_001346951.2:c.243dup, NM_001346951.1:c.243dup, NM_001346952.2:c.243dup, NM_001346952.1:c.243dup, NM_001346954.2:c.243dup, NM_001346954.1:c.243dup, NM_001346956.2:c.243dup, NM_001346956.1:c.243dup, NM_001346948.2:c.243dup, NM_001346948.1:c.243dup, XP_016857591.1:p.Tyr82fs, XP_016857588.1:p.Tyr82fs, NP_073611.1:p.Tyr82fs, NP_001333875.1:p.Tyr82fs, NP_001333882.1:p.Tyr82fs, NP_001333876.1:p.Tyr82fs, NP_001333879.1:p.Tyr82fs, NP_001333878.1:p.Tyr82fs, NP_001333884.1:p.Tyr82fs, NP_001333880.1:p.Tyr82fs, NP_001333881.1:p.Tyr82fs, NP_001333883.1:p.Tyr82fs, NP_001333885.1:p.Tyr82fs, NP_001333877.1:p.Tyr82fs

Select item 14909953343.

rs1490995334 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCA>- [Show Flanks]
Chromosome:: 1:40516959 (GRCh38)
1:40982631 (GRCh37)
Canonical SPDI:: NC_000001.11:40516953:CATCATCA:CATCA
Validated:: by frequency,by alfa,by cluster
MAF:: CATCA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.40516956TCA[1], NC_000001.10:g.40982628TCA[1]

Select item 14909649054.

rs1490964905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:40515439 (GRCh38)
1:40981111 (GRCh37)
Canonical SPDI:: NC_000001.11:40515438:A:G
Gene:: EXO5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.40515439A>G, NC_000001.10:g.40981111A>G, XM_017002102.3:c.895A>G, XM_017002102.2:c.895A>G, XM_017002102.1:c.895A>G, XM_017002099.3:c.895A>G, XM_017002099.2:c.895A>G, XM_017002099.1:c.895A>G, NM_022774.3:c.895A>G, NM_022774.2:c.895A>G, NM_022774.1:c.895A>G, NM_001346946.2:c.895A>G, NM_001346946.1:c.895A>G, NM_001346953.2:c.895A>G, NM_001346953.1:c.895A>G, NM_001346947.2:c.895A>G, NM_001346947.1:c.895A>G, NM_001346950.2:c.895A>G, NM_001346950.1:c.895A>G, NM_001346949.2:c.895A>G, NM_001346949.1:c.895A>G, NM_001346955.2:c.895A>G, NM_001346955.1:c.895A>G, NM_001346951.2:c.895A>G, NM_001346951.1:c.895A>G, NM_001346952.2:c.895A>G, NM_001346952.1:c.895A>G, NM_001346954.2:c.895A>G, NM_001346954.1:c.895A>G, NM_001346956.2:c.895A>G, NM_001346956.1:c.895A>G, NM_001346948.2:c.895A>G, NM_001346948.1:c.895A>G, XP_016857591.1:p.Thr299Ala, XP_016857588.1:p.Thr299Ala, NP_073611.1:p.Thr299Ala, NP_001333875.1:p.Thr299Ala, NP_001333882.1:p.Thr299Ala, NP_001333876.1:p.Thr299Ala, NP_001333879.1:p.Thr299Ala, NP_001333878.1:p.Thr299Ala, NP_001333884.1:p.Thr299Ala, NP_001333880.1:p.Thr299Ala, NP_001333881.1:p.Thr299Ala, NP_001333883.1:p.Thr299Ala, NP_001333885.1:p.Thr299Ala, NP_001333877.1:p.Thr299Ala

Select item 14903517665.

rs1490351766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:40515903 (GRCh38)
1:40981575 (GRCh37)
Canonical SPDI:: NC_000001.11:40515902:C:G
Gene:: EXO5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.40515903C>G, NC_000001.10:g.40981575C>G, XM_017002102.3:c.*237C>G, XM_017002102.2:c.*237C>G, XM_017002102.1:c.*237C>G, XM_017002099.3:c.*237C>G, XM_017002099.2:c.*237C>G, XM_017002099.1:c.*237C>G, NM_022774.3:c.*237C>G, NM_022774.2:c.*237C>G, NM_022774.1:c.*237C>G, NM_001346946.2:c.*237C>G, NM_001346946.1:c.*237C>G, NM_001346953.2:c.*237C>G, NM_001346953.1:c.*237C>G, NM_001346947.2:c.*237C>G, NM_001346947.1:c.*237C>G, NM_001346950.2:c.*237C>G, NM_001346950.1:c.*237C>G, NM_001346949.2:c.*237C>G, NM_001346949.1:c.*237C>G, NM_001346955.2:c.*237C>G, NM_001346955.1:c.*237C>G, NM_001346951.2:c.*237C>G, NM_001346951.1:c.*237C>G, NM_001346952.2:c.*237C>G, NM_001346952.1:c.*237C>G, NM_001346954.2:c.*237C>G, NM_001346954.1:c.*237C>G, NM_001346956.2:c.*237C>G, NM_001346956.1:c.*237C>G, NM_001346948.2:c.*237C>G, NM_001346948.1:c.*237C>G

Select item 14903062606.

rs1490306260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:40509135 (GRCh38)
1:40974807 (GRCh37)
Canonical SPDI:: NC_000001.11:40509134:G:A,NC_000001.11:40509134:G:T
Gene:: EXO5 (Varview), EXO5-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.40509135G>A, NC_000001.11:g.40509135G>T, NC_000001.10:g.40974807G>A, NC_000001.10:g.40974807G>T, XM_017002102.3:c.-585G>A, XM_017002102.3:c.-585G>T, XM_017002102.2:c.-585G>A, XM_017002102.2:c.-585G>T, XM_017002102.1:c.-585G>A, XM_017002102.1:c.-585G>T, XM_017002099.3:c.-478G>A, XM_017002099.3:c.-478G>T, XM_017002099.2:c.-478G>A, XM_017002099.2:c.-478G>T, XM_017002099.1:c.-478G>A, XM_017002099.1:c.-478G>T

Select item 14900328157.

rs1490032815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:40516904 (GRCh38)
1:40982576 (GRCh37)
Canonical SPDI:: NC_000001.11:40516903:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.40516904G>A, NC_000001.10:g.40982576G>A

Select item 14892148598.

rs1489214859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:40510845 (GRCh38)
1:40976517 (GRCh37)
Canonical SPDI:: NC_000001.11:40510844:C:T
Gene:: EXO5 (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.40510845C>T, NC_000001.10:g.40976517C>T

Select item 14889512329.

rs1488951232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:40514756 (GRCh38)
1:40980428 (GRCh37)
Canonical SPDI:: NC_000001.11:40514755:C:T
Gene:: EXO5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40514756C>T, NC_000001.10:g.40980428C>T, XM_017002102.3:c.212C>T, XM_017002102.2:c.212C>T, XM_017002102.1:c.212C>T, XM_017002099.3:c.212C>T, XM_017002099.2:c.212C>T, XM_017002099.1:c.212C>T, NM_022774.3:c.212C>T, NM_022774.2:c.212C>T, NM_022774.1:c.212C>T, NM_001346946.2:c.212C>T, NM_001346946.1:c.212C>T, NM_001346953.2:c.212C>T, NM_001346953.1:c.212C>T, NM_001346947.2:c.212C>T, NM_001346947.1:c.212C>T, NM_001346950.2:c.212C>T, NM_001346950.1:c.212C>T, NM_001346949.2:c.212C>T, NM_001346949.1:c.212C>T, NM_001346955.2:c.212C>T, NM_001346955.1:c.212C>T, NM_001346951.2:c.212C>T, NM_001346951.1:c.212C>T, NM_001346952.2:c.212C>T, NM_001346952.1:c.212C>T, NM_001346954.2:c.212C>T, NM_001346954.1:c.212C>T, NM_001346956.2:c.212C>T, NM_001346956.1:c.212C>T, NM_001346948.2:c.212C>T, NM_001346948.1:c.212C>T, XP_016857591.1:p.Ser71Leu, XP_016857588.1:p.Ser71Leu, NP_073611.1:p.Ser71Leu, NP_001333875.1:p.Ser71Leu, NP_001333882.1:p.Ser71Leu, NP_001333876.1:p.Ser71Leu, NP_001333879.1:p.Ser71Leu, NP_001333878.1:p.Ser71Leu, NP_001333884.1:p.Ser71Leu, NP_001333880.1:p.Ser71Leu, NP_001333881.1:p.Ser71Leu, NP_001333883.1:p.Ser71Leu, NP_001333885.1:p.Ser71Leu, NP_001333877.1:p.Ser71Leu

Select item 148890421810.

rs1488904218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:40509265 (GRCh38)
1:40974937 (GRCh37)
Canonical SPDI:: NC_000001.11:40509264:G:A,NC_000001.11:40509264:G:C,NC_000001.11:40509264:G:T
Gene:: EXO5 (Varview), EXO5-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40509265G>A, NC_000001.11:g.40509265G>C, NC_000001.11:g.40509265G>T, NC_000001.10:g.40974937G>A, NC_000001.10:g.40974937G>C, NC_000001.10:g.40974937G>T, XM_017002102.3:c.-455G>A, XM_017002102.3:c.-455G>C, XM_017002102.3:c.-455G>T, XM_017002102.2:c.-455G>A, XM_017002102.2:c.-455G>C, XM_017002102.2:c.-455G>T, XM_017002102.1:c.-455G>A, XM_017002102.1:c.-455G>C, XM_017002102.1:c.-455G>T, XM_017002099.3:c.-348G>A, XM_017002099.3:c.-348G>C, XM_017002099.3:c.-348G>T, XM_017002099.2:c.-348G>A, XM_017002099.2:c.-348G>C, XM_017002099.2:c.-348G>T, XM_017002099.1:c.-348G>A, XM_017002099.1:c.-348G>C, XM_017002099.1:c.-348G>T

Select item 148874188411.

rs1488741884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:40513051 (GRCh38)
1:40978723 (GRCh37)
Canonical SPDI:: NC_000001.11:40513050:A:G
Gene:: EXO5 (Varview)
Functional Consequence:: intron_variant
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.40513051A>G, NC_000001.10:g.40978723A>G

Select item 148863480612.

rs1488634806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:40506792 (GRCh38)
1:40972464 (GRCh37)
Canonical SPDI:: NC_000001.11:40506791:C:A
Gene:: EXO5 (Varview), EXO5-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.40506792C>A, NC_000001.10:g.40972464C>A

Select item 148834765113.

rs1488347651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:40513310 (GRCh38)
1:40978982 (GRCh37)
Canonical SPDI:: NC_000001.11:40513309:A:G
Gene:: EXO5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.40513310A>G, NC_000001.10:g.40978982A>G

Select item 148823958814.

rs1488239588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:40510246 (GRCh38)
1:40975918 (GRCh37)
Canonical SPDI:: NC_000001.11:40510245:T:G
Gene:: EXO5 (Varview), EXO5-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40510246T>G, NC_000001.10:g.40975918T>G

Select item 148809163815.

rs1488091638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:40514135 (GRCh38)
1:40979807 (GRCh37)
Canonical SPDI:: NC_000001.11:40514134:C:T
Gene:: EXO5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.40514135C>T, NC_000001.10:g.40979807C>T

Select item 148718518616.

rs1487185186 has merged into rs755711238 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>-,CTTTCTTT [Show Flanks]
Chromosome:: 1:40507124 (GRCh38)
1:40972796 (GRCh37)
Canonical SPDI:: NC_000001.11:40507114:TCTTTCTTTCTTT:TCTTTCTTT,NC_000001.11:40507114:TCTTTCTTTCTTT:TCTTTCTTTCTTTCTTT
Gene:: EXO5 (Varview), EXO5-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTCTTTCTTTCTTT=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.40507116CTTT[2], NC_000001.11:g.40507116CTTT[4], NC_000001.10:g.40972788CTTT[2], NC_000001.10:g.40972788CTTT[4]

Select item 148705535117.

rs1487055351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:40507527 (GRCh38)
1:40973199 (GRCh37)
Canonical SPDI:: NC_000001.11:40507526:G:T
Gene:: EXO5 (Varview), EXO5-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.40507527G>T, NC_000001.10:g.40973199G>T

Select item 148674861318.

rs1486748613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:40512657 (GRCh38)
1:40978329 (GRCh37)
Canonical SPDI:: NC_000001.11:40512656:A:C
Gene:: EXO5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40512657A>C, NC_000001.10:g.40978329A>C

Select item 148605154819.

rs1486051548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:40516536 (GRCh38)
1:40982208 (GRCh37)
Canonical SPDI:: NC_000001.11:40516535:G:A
Gene:: EXO5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40516536G>A, NC_000001.10:g.40982208G>A, NM_022774.1:c.*870G>A

Select item 148565919720.

rs1485659197 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:40512946 (GRCh38)
1:40978618 (GRCh37)
Canonical SPDI:: NC_000001.11:40512945:AAAAAA:AAAAA
Gene:: EXO5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.40512951del, NC_000001.10:g.40978623del

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