SNP Links for Gene (Select 647042) - SNP

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Select item 14915829861.

rs1491582986 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TGTAGCCTCTCCTCCTGTACA,TGTAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTACA
Chromosome:: no mapping
Canonical SPDI:

Select item 14914997682.

rs1491499768 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:82345481 (GRCh38)
15:82637712 (GRCh37)
Canonical SPDI:: NC_000015.10:82345480:AT:
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.0047/16 (TOMMO)
HGVS:: NC_000015.10:g.82345481_82345482del, NC_000015.9:g.82637712_82637713del, NT_187606.1:g.55558_55559del

Select item 14914544273.

rs1491454427 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 15:82343177 (GRCh38)
15:82635532 (GRCh37)
Canonical SPDI:: NC_000015.10:82343176:GG:
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000015.10:g.82343177_82343178del, NC_000015.9:g.82635532_82635533del, NT_187606.1:g.53210_53211del, NM_001164465.3:c.1376_1377del, NM_001164465.2:c.1247_1248del, NM_001322400.1:c.1418_1419del, NP_001157937.2:p.Ala459fs

Select item 14913922394.

rs1491392239 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC,AG,AT [Show Flanks]
Chromosome:: 15:82345481 (GRCh38)
15:82637713 (GRCh37)
Canonical SPDI:: NC_000015.10:82345481::AC,NC_000015.10:82345481::AG,NC_000015.10:82345481::AT
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
AT=0.00007/2 (TOMMO)
HGVS:: NC_000015.10:g.82345481_82345482insAC, NC_000015.10:g.82345481_82345482insAG, NC_000015.10:g.82345481_82345482insAT, NC_000015.9:g.82637712_82637713insAC, NC_000015.9:g.82637712_82637713insAG, NC_000015.9:g.82637712_82637713insAT, NT_187606.1:g.55558_55559insAC, NT_187606.1:g.55558_55559insAG, NT_187606.1:g.55558_55559insAT

Select item 14912735085.

rs1491273508 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:82342744 (GRCh38)
15:82635098 (GRCh37)
Canonical SPDI:: NC_000015.10:82342742:TGT:T
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00615/73 (ALFA)
TG=0.99551/15946 (TOMMO)
HGVS:: NC_000015.10:g.82342744_82342745del, NC_000015.9:g.82635098_82635099del, NM_001164465.3:c.*32_*33del, NM_001164465.2:c.*32_*33del

Select item 14912114716.

rs1491211471 has merged into rs777935956 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 15:82342756 (GRCh38)
15:82635110 (GRCh37)
Canonical SPDI:: NC_000015.10:82342744:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:82342744:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:82342744:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:82342744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:82342744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:82342744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.00187/30 (TOMMO)
HGVS:: NC_000015.10:g.82342756_82342757del, NC_000015.10:g.82342757del, NC_000015.10:g.82342757dup, NC_000015.10:g.82342756_82342757dup, NC_000015.10:g.82342755_82342757dup, NC_000015.10:g.82342754_82342757dup, NC_000015.9:g.82635110_82635111del, NC_000015.9:g.82635111del, NC_000015.9:g.82635111dup, NC_000015.9:g.82635110_82635111dup, NC_000015.9:g.82635109_82635111dup, NC_000015.9:g.82635108_82635111dup, NT_187606.1:g.52789_52790del, NT_187606.1:g.52790del, NT_187606.1:g.52790dup, NT_187606.1:g.52789_52790dup, NT_187606.1:g.52788_52790dup, NT_187606.1:g.52787_52790dup, NM_001164465.3:c.*30_*31del, NM_001164465.3:c.*31del, NM_001164465.3:c.*31dup, NM_001164465.3:c.*30_*31dup, NM_001164465.3:c.*29_*31dup, NM_001164465.3:c.*28_*31dup, NM_001164465.2:c.*30_*31del, NM_001164465.2:c.*31del, NM_001164465.2:c.*31dup, NM_001164465.2:c.*30_*31dup, NM_001164465.2:c.*29_*31dup, NM_001164465.2:c.*28_*31dup, NM_001322400.1:c.*31_*32del, NM_001322400.1:c.*32del, NM_001322400.1:c.*32dup, NM_001322400.1:c.*31_*32dup, NM_001322400.1:c.*30_*32dup, NM_001322400.1:c.*29_*32dup

Select item 14910826207.

rs1491082620 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGT [Show Flanks]
Chromosome:: 15:82345004 (GRCh38)
15:-1 (GRCh37)
Canonical SPDI:: NC_000015.10:82345004::AGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGT
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,inframe_indel
HGVS:: NC_000015.10:g.82345004_82345005insAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGT, NT_187606.1:g.55037_55038insAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGT, NM_001164465.3:c.855_856insACGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCT, NM_001322400.1:c.897_898insACGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCT, NP_001157937.2:p.Cys286delinsThrTer

Select item 14909278258.

rs1490927825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:82346554 (GRCh38)
15:82638785 (GRCh37)
Canonical SPDI:: NC_000015.10:82346553:C:G,NC_000015.10:82346553:C:T
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000015.10:g.82346554C>G, NC_000015.10:g.82346554C>T, NC_000015.9:g.82638785C>G, NC_000015.9:g.82638785C>T, NT_187606.1:g.56631C>G, NT_187606.1:g.56631C>T

Select item 14907191919.

rs1490719191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:82340922 (GRCh38)
15:82633276 (GRCh37)
Canonical SPDI:: NC_000015.10:82340921:G:A,NC_000015.10:82340921:G:C
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000062/1 (TOMMO)
HGVS:: NC_000015.10:g.82340922G>A, NC_000015.10:g.82340922G>C, NC_000015.9:g.82633276G>A, NC_000015.9:g.82633276G>C, NT_187606.1:g.50958G>A, NT_187606.1:g.50958G>C, NM_001164465.3:c.*1854C>T, NM_001164465.3:c.*1854C>G, NM_001164465.2:c.*1854C>T, NM_001164465.2:c.*1854C>G

Select item 149071414210.

rs1490714142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82342202 (GRCh38)
15:82634556 (GRCh37)
Canonical SPDI:: NC_000015.10:82342201:T:C
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.82342202T>C, NC_000015.9:g.82634556T>C, NT_187606.1:g.52238T>C, NM_001164465.3:c.*574A>G, NM_001164465.2:c.*574A>G

Select item 149057561511.

rs1490575615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82346874 (GRCh38)
15:82639105 (GRCh37)
Canonical SPDI:: NC_000015.10:82346873:T:C
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.20351/2414 (ALFA)
C=0.16688/16358 (GnomAD)
C=0.24455/6882 (TOMMO)
C=0.24703/1582 (1000Genomes)
HGVS:: NC_000015.10:g.82346874T>C, NC_000015.9:g.82639105T>C, NT_187606.1:g.56951T>C, NM_001164465.3:c.217A>G, NM_001164465.2:c.217A>G, NM_001322400.1:c.217A>G, NP_001157937.2:p.Ile73Val

Select item 149048417012.

rs1490484170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:82346203 (GRCh38)
15:82638434 (GRCh37)
Canonical SPDI:: NC_000015.10:82346202:A:G
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.82346203A>G, NC_000015.9:g.82638434A>G, NT_187606.1:g.56280A>G

Select item 149023057613.

rs1490230576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:82340532 (GRCh38)
15:82632886 (GRCh37)
Canonical SPDI:: NC_000015.10:82340531:A:G
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.219502/3084 (ALFA)
A=0.000036/1 (TOMMO)
A=0.116177/744 (1000Genomes)
A=0.187091/49521 (TOPMED)
A=0.195565/27072 (GnomAD)
HGVS:: NC_000015.10:g.82340532A>G, NC_000015.9:g.82632886G>A, NT_187606.1:g.50568G>A, NM_001164465.3:c.*2244T>C, NM_001164465.2:c.*2244C>T

Select item 149022594914.

rs1490225949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82341611 (GRCh38)
15:82633965 (GRCh37)
Canonical SPDI:: NC_000015.10:82341610:T:C
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00084/10 (ALFA)
C=0.00305/123 (GnomAD)
HGVS:: NC_000015.10:g.82341611T>C, NC_000015.9:g.82633965T>C, NT_187606.1:g.51647T>C, NM_001164465.3:c.*1165A>G, NM_001164465.2:c.*1165A>G

Select item 148990729615.

rs1489907296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82342899 (GRCh38)
15:82635253 (GRCh37)
Canonical SPDI:: NC_000015.10:82342898:C:T
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.82342899C>T, NC_000015.9:g.82635253C>T, NT_187606.1:g.52932C>T, NM_001164465.3:c.1446G>A, NM_001164465.2:c.1317G>A, NM_001322400.1:c.1488G>A

Select item 148968639616.

rs1489686396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82340239 (GRCh38)
15:82632593 (GRCh37)
Canonical SPDI:: NC_000015.10:82340238:C:T
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000079/21 (TOPMED)
T=0.000136/19 (GnomAD)
HGVS:: NC_000015.10:g.82340239C>T, NC_000015.9:g.82632593C>T, NT_187606.1:g.50275C>T, NM_001164465.3:c.*2537G>A, NM_001164465.2:c.*2537G>A

Select item 148958357617.

rs1489583576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82343706 (GRCh38)
15:82636061 (GRCh37)
Canonical SPDI:: NC_000015.10:82343705:C:T
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.82343706C>T, NC_000015.9:g.82636061C>T, NT_187606.1:g.53739C>T

Select item 148932159918.

rs1489321599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:82343005 (GRCh38)
15:82635359 (GRCh37)
Canonical SPDI:: NC_000015.10:82343004:C:A
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.82343005C>A, NC_000015.9:g.82635359C>A, NT_187606.1:g.53038C>A

Select item 148921760319.

rs1489217603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:82342456 (GRCh38)
15:82634810 (GRCh37)
Canonical SPDI:: NC_000015.10:82342455:G:A,NC_000015.10:82342455:G:T
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00062/4 (1000Genomes)
HGVS:: NC_000015.10:g.82342456G>A, NC_000015.10:g.82342456G>T, NC_000015.9:g.82634810G>A, NC_000015.9:g.82634810G>T, NT_187606.1:g.52492G>A, NT_187606.1:g.52492G>T, NM_001164465.3:c.*320C>T, NM_001164465.3:c.*320C>A, NM_001164465.2:c.*320C>T, NM_001164465.2:c.*320C>A

Select item 148914761020.

rs1489147610 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAT>- [Show Flanks]
Chromosome:: 15:82342644 (GRCh38)
15:82634998 (GRCh37)
Canonical SPDI:: NC_000015.10:82342639:AAATAAAT:AAAT
Gene:: GOLGA6L10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAAT=0.213539/2533 (ALFA)
-=0.157293/17071 (GnomAD)
-=0.337568/9539 (TOMMO)
HGVS:: NC_000015.10:g.82342640AAAT[1], NC_000015.9:g.82634994AAAT[1], NT_187606.1:g.52676_52679dup, NM_001164465.3:c.*129ATTT[1], NM_001164465.2:c.*129ATTT[1]