SNP Links for Gene (Select 57794) - SNP

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Select item 14915673371.

rs1491567337 has merged into rs1192437542 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:19318123 (GRCh38)
19:19428932 (GRCh37)
Canonical SPDI:: NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.19318123_19318134del, NC_000019.10:g.19318124_19318134del, NC_000019.10:g.19318128_19318134del, NC_000019.10:g.19318129_19318134del, NC_000019.10:g.19318131_19318134del, NC_000019.10:g.19318132_19318134del, NC_000019.10:g.19318133_19318134del, NC_000019.10:g.19318134del, NC_000019.10:g.19318134dup, NC_000019.10:g.19318133_19318134dup, NC_000019.10:g.19318132_19318134dup, NC_000019.10:g.19318131_19318134dup, NC_000019.10:g.19318130_19318134dup, NC_000019.10:g.19318129_19318134dup, NC_000019.10:g.19318128_19318134dup, NC_000019.10:g.19318127_19318134dup, NC_000019.10:g.19318126_19318134dup, NC_000019.10:g.19318134_19318135insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.19428932_19428943del, NC_000019.9:g.19428933_19428943del, NC_000019.9:g.19428937_19428943del, NC_000019.9:g.19428938_19428943del, NC_000019.9:g.19428940_19428943del, NC_000019.9:g.19428941_19428943del, NC_000019.9:g.19428942_19428943del, NC_000019.9:g.19428943del, NC_000019.9:g.19428943dup, NC_000019.9:g.19428942_19428943dup, NC_000019.9:g.19428941_19428943dup, NC_000019.9:g.19428940_19428943dup, NC_000019.9:g.19428939_19428943dup, NC_000019.9:g.19428938_19428943dup, NC_000019.9:g.19428937_19428943dup, NC_000019.9:g.19428936_19428943dup, NC_000019.9:g.19428935_19428943dup, NC_000019.9:g.19428943_19428944insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914763812.

rs1491476381 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:19307657 (GRCh38)
19:19418467 (GRCh37)
Canonical SPDI:: NC_000019.10:19307657:C:CC
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19307658dup, NC_000019.9:g.19418467dup

Select item 14913386943.

rs1491338694 has merged into rs1226972946 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 19:19291935 (GRCh38)
19:19402744 (GRCh37)
Canonical SPDI:: NC_000019.10:19291932:AAAA:AA,NC_000019.10:19291932:AAAA:AAA
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000302/40 (GnomAD)
-=0.000885/15 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.19291935_19291936del, NC_000019.10:g.19291936del, NC_000019.9:g.19402744_19402745del, NC_000019.9:g.19402745del

Select item 14913351164.

rs1491335116 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:19311726 (GRCh38)
19:19422535 (GRCh37)
Canonical SPDI:: NC_000019.10:19311725:CA:
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000019.10:g.19311726_19311727del, NC_000019.9:g.19422535_19422536del

Select item 14912898055.

rs1491289805 has merged into rs55707664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:19311736 (GRCh38)
19:19422545 (GRCh37)
Canonical SPDI:: NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19311726:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.19311736_19311749del, NC_000019.10:g.19311737_19311749del, NC_000019.10:g.19311739_19311749del, NC_000019.10:g.19311740_19311749del, NC_000019.10:g.19311741_19311749del, NC_000019.10:g.19311742_19311749del, NC_000019.10:g.19311743_19311749del, NC_000019.10:g.19311745_19311749del, NC_000019.10:g.19311746_19311749del, NC_000019.10:g.19311747_19311749del, NC_000019.10:g.19311748_19311749del, NC_000019.10:g.19311749del, NC_000019.10:g.19311749dup, NC_000019.10:g.19311748_19311749dup, NC_000019.10:g.19311747_19311749dup, NC_000019.10:g.19311746_19311749dup, NC_000019.10:g.19311745_19311749dup, NC_000019.10:g.19311744_19311749dup, NC_000019.9:g.19422545_19422558del, NC_000019.9:g.19422546_19422558del, NC_000019.9:g.19422548_19422558del, NC_000019.9:g.19422549_19422558del, NC_000019.9:g.19422550_19422558del, NC_000019.9:g.19422551_19422558del, NC_000019.9:g.19422552_19422558del, NC_000019.9:g.19422554_19422558del, NC_000019.9:g.19422555_19422558del, NC_000019.9:g.19422556_19422558del, NC_000019.9:g.19422557_19422558del, NC_000019.9:g.19422558del, NC_000019.9:g.19422558dup, NC_000019.9:g.19422557_19422558dup, NC_000019.9:g.19422556_19422558dup, NC_000019.9:g.19422555_19422558dup, NC_000019.9:g.19422554_19422558dup, NC_000019.9:g.19422553_19422558dup

Select item 14912513046.

rs1491251304 has merged into rs781257871 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:19317819 (GRCh38)
19:19428628 (GRCh37)
Canonical SPDI:: NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19317808:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19317819_19317828del, NC_000019.10:g.19317822_19317828del, NC_000019.10:g.19317823_19317828del, NC_000019.10:g.19317824_19317828del, NC_000019.10:g.19317825_19317828del, NC_000019.10:g.19317826_19317828del, NC_000019.10:g.19317827_19317828del, NC_000019.10:g.19317828del, NC_000019.10:g.19317828dup, NC_000019.10:g.19317827_19317828dup, NC_000019.10:g.19317826_19317828dup, NC_000019.10:g.19317825_19317828dup, NC_000019.10:g.19317824_19317828dup, NC_000019.10:g.19317823_19317828dup, NC_000019.10:g.19317822_19317828dup, NC_000019.10:g.19317821_19317828dup, NC_000019.10:g.19317828_19317829insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.19428628_19428637del, NC_000019.9:g.19428631_19428637del, NC_000019.9:g.19428632_19428637del, NC_000019.9:g.19428633_19428637del, NC_000019.9:g.19428634_19428637del, NC_000019.9:g.19428635_19428637del, NC_000019.9:g.19428636_19428637del, NC_000019.9:g.19428637del, NC_000019.9:g.19428637dup, NC_000019.9:g.19428636_19428637dup, NC_000019.9:g.19428635_19428637dup, NC_000019.9:g.19428634_19428637dup, NC_000019.9:g.19428633_19428637dup, NC_000019.9:g.19428632_19428637dup, NC_000019.9:g.19428631_19428637dup, NC_000019.9:g.19428630_19428637dup, NC_000019.9:g.19428637_19428638insTTTTTTTTTTTTTTTTTTTTTT

Select item 14912470567.

rs1491247056 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:19295605 (GRCh38)
19:19406414 (GRCh37)
Canonical SPDI:: NC_000019.10:19295604:CA:
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000019.10:g.19295605_19295606del, NC_000019.9:g.19406414_19406415del

Select item 14911575458.

rs1491157545 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT,CTTTCTTT,CTTTTCTTT [Show Flanks]
Chromosome:: 19:19318114 (GRCh38)
19:19428924 (GRCh37)
Canonical SPDI:: NC_000019.10:19318114:TTT:TTTCTTT,NC_000019.10:19318114:TTT:TTTCTTTCTTT,NC_000019.10:19318114:TTT:TTTCTTTTCTTT
Gene:: SUGP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTTCTTT=0./0 (ALFA)
TTTCTTTTC=0.000004/1 (TOPMED)
TTTCTTTTC=0.002738/5 (Korea1K)
HGVS:: NC_000019.10:g.19318117_19318118insCTTT, NC_000019.10:g.19318117_19318118insCTTTCTTT, NC_000019.10:g.19318115_19318117TTTCT[2]TT[1], NC_000019.9:g.19428926_19428927insCTTT, NC_000019.9:g.19428926_19428927insCTTTCTTT, NC_000019.9:g.19428924_19428926TTTCT[2]TT[1]

Select item 14911501479.

rs1491150147 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:19307658 (GRCh38)
19:19418467 (GRCh37)
Canonical SPDI:: NC_000019.10:19307656:TCT:T
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19307658_19307659del, NC_000019.9:g.19418467_19418468del

Select item 149108618510.

rs1491086185 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 19:19313009 (GRCh38)
19:19423818 (GRCh37)
Canonical SPDI:: NC_000019.10:19313008:AAAA:AAA,NC_000019.10:19313008:AAAA:AAAAA
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.19313012del, NC_000019.10:g.19313012dup, NC_000019.9:g.19423821del, NC_000019.9:g.19423821dup

Select item 149101477911.

rs1491014779 has merged into rs35467129 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:19311064 (GRCh38)
19:19421873 (GRCh37)
Canonical SPDI:: NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:19311054:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000019.10:g.19311064_19311071del, NC_000019.10:g.19311065_19311071del, NC_000019.10:g.19311066_19311071del, NC_000019.10:g.19311068_19311071del, NC_000019.10:g.19311069_19311071del, NC_000019.10:g.19311070_19311071del, NC_000019.10:g.19311071del, NC_000019.10:g.19311071dup, NC_000019.10:g.19311070_19311071dup, NC_000019.10:g.19311069_19311071dup, NC_000019.9:g.19421873_19421880del, NC_000019.9:g.19421874_19421880del, NC_000019.9:g.19421875_19421880del, NC_000019.9:g.19421877_19421880del, NC_000019.9:g.19421878_19421880del, NC_000019.9:g.19421879_19421880del, NC_000019.9:g.19421880del, NC_000019.9:g.19421880dup, NC_000019.9:g.19421879_19421880dup, NC_000019.9:g.19421878_19421880dup

Select item 149089658912.

rs1490896589 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:19283207 (GRCh38)
19:19394016 (GRCh37)
Canonical SPDI:: NC_000019.10:19283202:CACACA:CACA
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19283203CA[2], NC_000019.9:g.19394012CA[2]

Select item 149084090413.

rs1490840904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19284046 (GRCh38)
19:19394855 (GRCh37)
Canonical SPDI:: NC_000019.10:19284045:G:A
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.19284046G>A, NC_000019.9:g.19394855G>A

Select item 149082600414.

rs1490826004 has merged into rs1192437542 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:19318123 (GRCh38)
19:19428932 (GRCh37)
Canonical SPDI:: NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19318113:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.19318123_19318134del, NC_000019.10:g.19318124_19318134del, NC_000019.10:g.19318128_19318134del, NC_000019.10:g.19318129_19318134del, NC_000019.10:g.19318131_19318134del, NC_000019.10:g.19318132_19318134del, NC_000019.10:g.19318133_19318134del, NC_000019.10:g.19318134del, NC_000019.10:g.19318134dup, NC_000019.10:g.19318133_19318134dup, NC_000019.10:g.19318132_19318134dup, NC_000019.10:g.19318131_19318134dup, NC_000019.10:g.19318130_19318134dup, NC_000019.10:g.19318129_19318134dup, NC_000019.10:g.19318128_19318134dup, NC_000019.10:g.19318127_19318134dup, NC_000019.10:g.19318126_19318134dup, NC_000019.10:g.19318134_19318135insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.19428932_19428943del, NC_000019.9:g.19428933_19428943del, NC_000019.9:g.19428937_19428943del, NC_000019.9:g.19428938_19428943del, NC_000019.9:g.19428940_19428943del, NC_000019.9:g.19428941_19428943del, NC_000019.9:g.19428942_19428943del, NC_000019.9:g.19428943del, NC_000019.9:g.19428943dup, NC_000019.9:g.19428942_19428943dup, NC_000019.9:g.19428941_19428943dup, NC_000019.9:g.19428940_19428943dup, NC_000019.9:g.19428939_19428943dup, NC_000019.9:g.19428938_19428943dup, NC_000019.9:g.19428937_19428943dup, NC_000019.9:g.19428936_19428943dup, NC_000019.9:g.19428935_19428943dup, NC_000019.9:g.19428943_19428944insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149080625515.

rs1490806255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19314670 (GRCh38)
19:19425479 (GRCh37)
Canonical SPDI:: NC_000019.10:19314669:C:T
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.19314670C>T, NC_000019.9:g.19425479C>T

Select item 149075188716.

rs1490751887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19304692 (GRCh38)
19:19415501 (GRCh37)
Canonical SPDI:: NC_000019.10:19304691:T:C
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.19304692T>C, NC_000019.9:g.19415501T>C

Select item 149060530317.

rs1490605303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:19291713 (GRCh38)
19:19402522 (GRCh37)
Canonical SPDI:: NC_000019.10:19291712:C:A
Gene:: SUGP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00034/1 (KOREAN)
HGVS:: NC_000019.10:g.19291713C>A, NC_000019.9:g.19402522C>A

Select item 149053643918.

rs1490536439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:19276253 (GRCh38)
19:19387062 (GRCh37)
Canonical SPDI:: NC_000019.10:19276252:G:A,NC_000019.10:19276252:G:C
Gene:: SUGP1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000019.10:g.19276253G>A, NC_000019.10:g.19276253G>C, NC_000019.9:g.19387062G>A, NC_000019.9:g.19387062G>C, NM_172231.4:c.*395C>T, NM_172231.4:c.*395C>G, NM_182812.1:c.*2035C>T, NM_182812.1:c.*2035C>G, XM_047439142.1:c.*395C>T, XM_047439142.1:c.*395C>G

Select item 149049386219.

rs1490493862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19297313 (GRCh38)
19:19408122 (GRCh37)
Canonical SPDI:: NC_000019.10:19297312:T:C
Gene:: SUGP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.19297313T>C, NC_000019.9:g.19408122T>C, NM_172231.4:c.919A>G, NM_172231.3:c.919A>G, NM_021164.2:c.*446A>G, NM_182812.1:c.*621A>G, XM_047439142.1:c.289A>G, NM_021164.1:c.*446A>G, NP_757386.2:p.Lys307Glu, XP_047295098.1:p.Lys97Glu

Select item 149048645020.

rs1490486450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:19320458 (GRCh38)
19:19431267 (GRCh37)
Canonical SPDI:: NC_000019.10:19320457:G:A,NC_000019.10:19320457:G:C
Gene:: MAU2 (Varview), SUGP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.19320458G>A, NC_000019.10:g.19320458G>C, NC_000019.9:g.19431267G>A, NC_000019.9:g.19431267G>C

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