SNP Links for Gene (Select 283685) - SNP

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Select item 14915687791.

rs1491568779 has merged into rs35836289 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:23449147 (GRCh38)
15:23694294 (GRCh37)
Canonical SPDI:: NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:23449137:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.1421/527 (TWINSUK)
-=0.1427/550 (ALSPAC)
-=0.15/6 (GENOME_DK)
T=0.4581/2294 (1000Genomes)
HGVS:: NC_000015.10:g.23449147_23449149del, NC_000015.10:g.23449148_23449149del, NC_000015.10:g.23449149del, NC_000015.10:g.23449149dup, NC_000015.10:g.23449148_23449149dup, NC_000015.10:g.23449147_23449149dup, NC_000015.10:g.23449145_23449149dup, NC_000015.10:g.23449149_23449150insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.23694294_23694296del, NC_000015.9:g.23694295_23694296del, NC_000015.9:g.23694296del, NC_000015.9:g.23694296dup, NC_000015.9:g.23694295_23694296dup, NC_000015.9:g.23694294_23694296dup, NC_000015.9:g.23694292_23694296dup, NC_000015.9:g.23694296_23694297insTTTTTTTTTTTTTTTTTTTTTTTT, NW_021160017.1:g.4395339_4395341del, NW_021160017.1:g.4395340_4395341del, NW_021160017.1:g.4395341del, NW_021160017.1:g.4395341dup, NW_021160017.1:g.4395340_4395341dup, NW_021160017.1:g.4395339_4395341dup, NW_021160017.1:g.4395337_4395341dup, NW_021160017.1:g.4395341_4395342insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914971412.

rs1491497141 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:23447645 (GRCh38)
15:23692792 (GRCh37)
Canonical SPDI:: NC_000015.10:23447644:GA:
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.23447645_23447646del, NC_000015.9:g.23692792_23692793del, NW_021160017.1:g.4393848dup, NW_021160017.1:g.4393838del

Select item 14913149753.

rs1491314975 has merged into rs59048780 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 15:23443388 (GRCh38)
15:23688535 (GRCh37)
Canonical SPDI:: NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
-=0.0916/353 (ALSPAC)
-=0.4457/2232 (1000Genomes)
HGVS:: NC_000015.10:g.23443378AC[5], NC_000015.10:g.23443378AC[6], NC_000015.10:g.23443378AC[7], NC_000015.10:g.23443378AC[8], NC_000015.10:g.23443378AC[9], NC_000015.10:g.23443378AC[10], NC_000015.10:g.23443378AC[11], NC_000015.10:g.23443378AC[13], NC_000015.10:g.23443378AC[14], NC_000015.10:g.23443378AC[19], NC_000015.9:g.23688525AC[5], NC_000015.9:g.23688525AC[6], NC_000015.9:g.23688525AC[7], NC_000015.9:g.23688525AC[8], NC_000015.9:g.23688525AC[9], NC_000015.9:g.23688525AC[10], NC_000015.9:g.23688525AC[11], NC_000015.9:g.23688525AC[13], NC_000015.9:g.23688525AC[14], NC_000015.9:g.23688525AC[19], NW_021160017.1:g.4389574AC[12], NW_021160017.1:g.4389574AC[5], NW_021160017.1:g.4389574AC[6], NW_021160017.1:g.4389574AC[7], NW_021160017.1:g.4389574AC[8], NW_021160017.1:g.4389574AC[9], NW_021160017.1:g.4389574AC[10], NW_021160017.1:g.4389574AC[13], NW_021160017.1:g.4389574AC[14], NW_021160017.1:g.4389574AC[19]

Select item 14912085704.

rs1491208570 has merged into rs34422934 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 15:23447655 (GRCh38)
15:23692802 (GRCh37)
Canonical SPDI:: NC_000015.10:23447645:AAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:23447645:AAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:23447645:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:23447645:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:23447645:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1/4 (GENOME_DK)
AA=0.1251/464 (TWINSUK)
AA=0.1264/487 (ALSPAC)
AA=0.1463/268 (Korea1K)
AA=0.1955/979 (1000Genomes)
HGVS:: NC_000015.10:g.23447655_23447657del, NC_000015.10:g.23447656_23447657del, NC_000015.10:g.23447657del, NC_000015.10:g.23447657dup, NC_000015.10:g.23447652_23447657dup, NC_000015.9:g.23692802_23692804del, NC_000015.9:g.23692803_23692804del, NC_000015.9:g.23692804del, NC_000015.9:g.23692804dup, NC_000015.9:g.23692799_23692804dup, NW_021160017.1:g.4393847_4393848dup, NW_021160017.1:g.4393848del, NW_021160017.1:g.4393848dup, NW_021160017.1:g.4393846_4393848dup, NW_021160017.1:g.4393841_4393848dup

Select item 14910840735.

rs1491084073 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:23440105 (GRCh38)
15:23685252 (GRCh37)
Canonical SPDI:: NC_000015.10:23440104:TG:
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.23440105_23440106del, NC_000015.9:g.23685252_23685253del, NW_021160017.1:g.4385530C>T, NW_021160017.1:g.4385531_4385532del, NM_001304388.2:c.2395-28G>A, NM_001304388.2:c.2395-29_2395-28del, NM_001304388.1:c.2369_2370del, XM_047432396.1:c.2210_2211del, XM_047432397.1:c.1465_1466del, NP_001291317.1:p.Ala790fs, XP_047288352.1:p.Ala737fs, XP_047288353.1:p.Gln489fs

Select item 14909233826.

rs1490923382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:23441419 (GRCh38)
15:23686566 (GRCh37)
Canonical SPDI:: NC_000015.10:23441418:C:G
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00025/3 (ALFA)
G=0.00171/5 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.23441419C>G, NC_000015.9:g.23686566C>G, NW_021160017.1:g.4387616C>G, NM_001304388.2:c.1056G>C, NM_001304388.1:c.1056G>C, XM_047432396.1:c.897G>C, XM_047432397.1:c.1056G>C, NM_182561.1:c.1056G>C, NP_001291317.1:p.Glu352Asp, XP_047288352.1:p.Glu299Asp, XP_047288353.1:p.Glu352Asp

Select item 14907425377.

rs1490742537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:23446747 (GRCh38)
15:23691894 (GRCh37)
Canonical SPDI:: NC_000015.10:23446746:C:G,NC_000015.10:23446746:C:T
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.23446747C>G, NC_000015.10:g.23446747C>T, NC_000015.9:g.23691894C>G, NC_000015.9:g.23691894C>T, NW_021160017.1:g.4392940C>G, NW_021160017.1:g.4392940C>T

Select item 14905832398.

rs1490583239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:23440415 (GRCh38)
15:23685562 (GRCh37)
Canonical SPDI:: NC_000015.10:23440414:T:C,NC_000015.10:23440414:T:G
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.23440415T>C, NC_000015.10:g.23440415T>G, NC_000015.9:g.23685562T>C, NC_000015.9:g.23685562T>G, NW_021160017.1:g.4386612T>C, NW_021160017.1:g.4386612T>G, NM_001304388.2:c.2060A>G, NM_001304388.2:c.2060A>C, NM_001304388.1:c.2060A>G, NM_001304388.1:c.2060A>C, XM_047432396.1:c.1901A>G, XM_047432396.1:c.1901A>C, XM_047432397.1:c.1339A>G, XM_047432397.1:c.1339A>C, NP_001291317.1:p.Glu687Gly, NP_001291317.1:p.Glu687Ala, XP_047288352.1:p.Glu634Gly, XP_047288352.1:p.Glu634Ala, XP_047288353.1:p.Lys447Glu, XP_047288353.1:p.Lys447Gln

Select item 14905575309.

rs1490557530 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:23439698 (GRCh38)
15:23684845 (GRCh37)
Canonical SPDI:: NC_000015.10:23439697:CCCC:CCC
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000015.10:g.23439701del, NC_000015.9:g.23684848del, NW_021160017.1:g.4385121del, NM_001304388.2:c.*47del, NM_001304388.1:c.*47del, XM_047432396.1:c.*47del, XM_047432397.1:c.1873del, NM_182561.1:c.1798del, XP_047288353.1:p.Glu625fs

Select item 149052143710.

rs1490521437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTAGTATTTA>- [Show Flanks]
Chromosome:: 15:23447813 (GRCh38)
15:23692960 (GRCh37)
Canonical SPDI:: NC_000015.10:23447798:TATTTTAGTATTTATTTTAGTATTTA:TATTTTAGTATTTA
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATTTTAGTATTTA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.23447801TTTTAGTATTTA[1], NC_000015.9:g.23692948TTTTAGTATTTA[1], NW_021160017.1:g.4393992TTTTAGTATTTA[1]

Select item 149025312711.

rs1490253127 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:23446290 (GRCh38)
15:23691437 (GRCh37)
Canonical SPDI:: NC_000015.10:23446289:A:
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.23446290del, NC_000015.9:g.23691437del, NW_021160017.1:g.4392483del

Select item 149019771812.

rs1490197718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:23447133 (GRCh38)
15:23692280 (GRCh37)
Canonical SPDI:: NC_000015.10:23447132:T:C
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000015.10:g.23447133T>C, NC_000015.9:g.23692280T>C, NW_021160017.1:g.4393326T>C, NM_001304388.2:c.49A>G, NM_001304388.1:c.49A>G, XM_047432396.1:c.49A>G, XM_047432397.1:c.49A>G, NM_182561.1:c.49A>G, NP_001291317.1:p.Thr17Ala, XP_047288352.1:p.Thr17Ala, XP_047288353.1:p.Thr17Ala

Select item 149013898313.

rs1490138983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:23439472 (GRCh38)
15:23684619 (GRCh37)
Canonical SPDI:: NC_000015.10:23439471:G:T
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00447/73 (ALFA)
T=0.00336/95 (TOMMO)
T=0.01507/44 (KOREAN)
HGVS:: NC_000015.10:g.23439472G>T, NC_000015.9:g.23684619G>T, NW_021160017.1:g.4384892G>T, NM_001304388.2:c.*273C>A, NM_001304388.1:c.*273C>A, XM_047432396.1:c.*273C>A, XM_047432397.1:c.*71C>A, NM_182561.1:c.*71C>A

Select item 149006905714.

rs1490069057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCCCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTG [Show Flanks]
Chromosome:: 15:23439997 (GRCh38)
15:23685145 (GRCh37)
Canonical SPDI:: NC_000015.10:23439997:CCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTG:CCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTG
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: CCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTGGCC=0.00004/2 (GnomAD_exomes)
CCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTGGCC=0.00006/1 (TOMMO)
HGVS:: NC_000015.10:g.23440037_23440038insGCCCCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTG, NC_000015.9:g.23685184_23685185insGCCCCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTG, NW_021160017.1:g.4385460_4385461insGCCCCCGCATCTTCTCCTCCTGGCCCTGCATCTTCTCCTCCTG, NM_001304388.2:c.2477_2478insGGCCAGGAGGAGAAGATGCAGGGCCAGGAGGAGAAGATGCGGG, NM_001304388.1:c.2477_2478insGGCCAGGAGGAGAAGATGCAGGGCCAGGAGGAGAAGATGCGGG, XM_047432396.1:c.2318_2319insGGCCAGGAGGAGAAGATGCAGGGCCAGGAGGAGAAGATGCGGG, XM_047432397.1:c.1573_1574insGGCCAGGAGGAGAAGATGCAGGGCCAGGAGGAGAAGATGCGGG, NP_001291317.1:p.Gly828fs, XP_047288352.1:p.Gly775fs, XP_047288353.1:p.Glu525fs

Select item 148974737315.

rs1489747373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:23442118 (GRCh38)
15:23687265 (GRCh37)
Canonical SPDI:: NC_000015.10:23442117:A:G
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.23442118A>G, NC_000015.9:g.23687265A>G, NW_021160017.1:g.4388315A>G, NM_001304388.2:c.653T>C, NM_001304388.1:c.653T>C, XM_047432396.1:c.494T>C, XM_047432397.1:c.653T>C, NM_182561.1:c.653T>C, NP_001291317.1:p.Ile218Thr, XP_047288352.1:p.Ile165Thr, XP_047288353.1:p.Ile218Thr

Select item 148950704816.

rs1489507048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:23439857 (GRCh38)
15:23685004 (GRCh37)
Canonical SPDI:: NC_000015.10:23439856:G:A,NC_000015.10:23439856:G:C,NC_000015.10:23439856:G:T
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000045/5 (GnomAD_exomes)
T=0.000109/9 (GnomAD)
T=0.006164/18 (KOREAN)
HGVS:: NC_000015.10:g.23439857G>A, NC_000015.10:g.23439857G>C, NC_000015.10:g.23439857G>T, NC_000015.9:g.23685004G>A, NC_000015.9:g.23685004G>C, NC_000015.9:g.23685004G>T, NW_021160017.1:g.4385277G>A, NW_021160017.1:g.4385277G>C, NW_021160017.1:g.4385277G>T, NM_001304388.2:c.2618C>T, NM_001304388.2:c.2618C>G, NM_001304388.2:c.2618C>A, NM_001304388.1:c.2618C>T, NM_001304388.1:c.2618C>G, NM_001304388.1:c.2618C>A, XM_047432396.1:c.2459C>T, XM_047432396.1:c.2459C>G, XM_047432396.1:c.2459C>A, XM_047432397.1:c.1714C>T, XM_047432397.1:c.1714C>G, XM_047432397.1:c.1714C>A, NM_182561.1:c.1639C>T, NM_182561.1:c.1639C>G, NM_182561.1:c.1639C>A, NP_001291317.1:p.Ala873Val, NP_001291317.1:p.Ala873Gly, NP_001291317.1:p.Ala873Glu, XP_047288352.1:p.Ala820Val, XP_047288352.1:p.Ala820Gly, XP_047288352.1:p.Ala820Glu, XP_047288353.1:p.Arg572Ter, XP_047288353.1:p.Arg572Gly

Select item 148926905117.

rs1489269051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:23443575 (GRCh38)
15:23688722 (GRCh37)
Canonical SPDI:: NC_000015.10:23443574:C:A,NC_000015.10:23443574:C:T
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.23443575C>A, NC_000015.10:g.23443575C>T, NC_000015.9:g.23688722C>A, NC_000015.9:g.23688722C>T, NW_021160017.1:g.4389769C>A, NW_021160017.1:g.4389769C>T

Select item 148897933118.

rs1488979331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:23442143 (GRCh38)
15:23687290 (GRCh37)
Canonical SPDI:: NC_000015.10:23442142:A:C,NC_000015.10:23442142:A:G
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.23442143A>C, NC_000015.10:g.23442143A>G, NC_000015.9:g.23687290A>C, NC_000015.9:g.23687290A>G, NW_021160017.1:g.4388340A>C, NW_021160017.1:g.4388340A>G

Select item 148895440219.

rs1488954402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACATCTTCCTGCTCCCGCATCTTCTCCTGCCGC>- [Show Flanks]
Chromosome:: 15:23440841 (GRCh38)
15:23685988 (GRCh37)
Canonical SPDI:: NC_000015.10:23440839:CACATCTTCCTGCTCCCGCATCTTCTCCTGCCGC:C
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by cluster
MAF:: -=0.000036/5 (GnomAD)
-=0.000252/7 (TOMMO)
HGVS:: NC_000015.10:g.23440841_23440873del, NC_000015.9:g.23685988_23686020del, NW_021160017.1:g.4387038_4387070del, NM_001304388.2:c.1603_1635del, NM_001304388.1:c.1603_1635del, XM_047432396.1:c.1444_1476del, NP_001291317.1:p.Arg535_Val545del, XP_047288352.1:p.Arg482_Val492del

Select item 148872224320.

rs1488722243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:23440483 (GRCh38)
15:23685630 (GRCh37)
Canonical SPDI:: NC_000015.10:23440482:T:C
Gene:: GOLGA6L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.23440483T>C, NC_000015.9:g.23685630T>C, NW_021160017.1:g.4386680T>C, NM_001304388.2:c.1992A>G, NM_001304388.1:c.1992A>G, XM_047432396.1:c.1833A>G, XM_047432397.1:c.1271A>G, XP_047288353.1:p.Glu424Gly

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