SNP Links for Gene (Select 6778) - SNP

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Select item 14914995711.

rs1491499571 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:57100693 (GRCh38)
12:57494477 (GRCh37)
Canonical SPDI:: NC_000012.12:57100693::G
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0002/5 (GnomAD)
G=0.00173/29 (TOMMO)
HGVS:: NC_000012.12:g.57100693_57100694insG, NC_000012.11:g.57494476_57494477insG, NG_021272.2:g.36446_36447insC, XM_047429476.1:c.1718_1719insC, XP_047285432.1:p.Leu574fs

Select item 14913523122.

rs1491352312 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:57100697 (GRCh38)
12:57494481 (GRCh37)
Canonical SPDI:: NC_000012.12:57100697::G
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00009/2 (GnomAD)
HGVS:: NC_000012.12:g.57100697_57100698insG, NC_000012.11:g.57494480_57494481insG, NG_021272.2:g.36442_36443insC, XM_047429476.1:c.1714_1715insC, XP_047285432.1:p.Phe572fs

Select item 14913326083.

rs1491332608 has merged into rs1555175012 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 12:57100690 (GRCh38)
12:57494473 (GRCh37)
Canonical SPDI:: NC_000012.12:57100688:AAA:A,NC_000012.12:57100688:AAA:AA,NC_000012.12:57100688:AAA:AAAA
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.0049/272 (GnomAD)
-=0.01474/245 (TOMMO)
-=0.05112/197 (ALSPAC)
-=0.05367/199 (TWINSUK)
HGVS:: NC_000012.12:g.57100690_57100691del, NC_000012.12:g.57100691del, NC_000012.12:g.57100691dup, NC_000012.11:g.57494473_57494474del, NC_000012.11:g.57494474del, NC_000012.11:g.57494474dup, NG_021272.2:g.36450_36451del, NG_021272.2:g.36451del, NG_021272.2:g.36451dup, XM_047429476.1:c.1722_1723del, XM_047429476.1:c.1723del, XM_047429476.1:c.1723dup, XP_047285432.1:p.Ser575fs, XP_047285432.1:p.Ser575fs, XP_047285432.1:p.Ser575fs

Select item 14912797684.

rs1491279768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 12:57100698 (GRCh38)
12:57494481 (GRCh37)
Canonical SPDI:: NC_000012.12:57100696:AAA:A,NC_000012.12:57100696:AAA:AAAAA
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.01401/233 (TOMMO)
HGVS:: NC_000012.12:g.57100698_57100699del, NC_000012.12:g.57100698_57100699dup, NC_000012.11:g.57494481_57494482del, NC_000012.11:g.57494481_57494482dup, NG_021272.2:g.36442_36443del, NG_021272.2:g.36442_36443dup, XM_047429476.1:c.1714_1715del, XM_047429476.1:c.1714_1715dup, XP_047285432.1:p.Phe572fs, XP_047285432.1:p.Phe573fs

Select item 14912717005.

rs1491271700 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:57112221 (GRCh38)
12:57506004 (GRCh37)
Canonical SPDI:: NC_000012.12:57112220:CC:
Gene:: STAT6 (Varview), LOC124902946 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00063/18 (GnomAD)
HGVS:: NC_000012.12:g.57112221_57112222del, NC_000012.11:g.57506004_57506005del, NG_021272.2:g.24918_24919del, XR_007063334.1:n.1385_1386del

Select item 14911306016.

rs1491130601 has merged into rs768486619 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 12:57100694 (GRCh38)
12:57494477 (GRCh37)
Canonical SPDI:: NC_000012.12:57100692:AAA:A,NC_000012.12:57100692:AAA:AA,NC_000012.12:57100692:AAA:AAAA
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00859/386 (GnomAD)
-=0.01319/219 (TOMMO)
-=0.05448/202 (TWINSUK)
-=0.06253/241 (ALSPAC)
HGVS:: NC_000012.12:g.57100694_57100695del, NC_000012.12:g.57100695del, NC_000012.12:g.57100695dup, NC_000012.11:g.57494477_57494478del, NC_000012.11:g.57494478del, NC_000012.11:g.57494478dup, NG_021272.2:g.36446_36447del, NG_021272.2:g.36447del, NG_021272.2:g.36447dup, XM_047429476.1:c.1718_1719del, XM_047429476.1:c.1719del, XM_047429476.1:c.1719dup, XP_047285432.1:p.Phe573fs, XP_047285432.1:p.Leu574fs, XP_047285432.1:p.Leu574fs

Select item 14911084127.

rs1491108412 has merged into rs1349534724 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 12:57100724 (GRCh38)
12:57494507 (GRCh37)
Canonical SPDI:: NC_000012.12:57100722:AAA:A,NC_000012.12:57100722:AAA:AAAA,NC_000012.12:57100722:AAA:AAAAA,NC_000012.12:57100722:AAA:AAAAAAA,NC_000012.12:57100722:AAA:AAAAAAAAA
Gene:: STAT6 (Varview)
Functional Consequence:: inframe_insertion,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.06409/247 (ALSPAC)
-=0.0658/244 (TWINSUK)
HGVS:: NC_000012.12:g.57100724_57100725del, NC_000012.12:g.57100725dup, NC_000012.12:g.57100724_57100725dup, NC_000012.12:g.57100725_57100726insAAAA, NC_000012.12:g.57100725_57100726insAAAAAA, NC_000012.11:g.57494507_57494508del, NC_000012.11:g.57494508dup, NC_000012.11:g.57494507_57494508dup, NC_000012.11:g.57494508_57494509insAAAA, NC_000012.11:g.57494508_57494509insAAAAAA, NG_021272.2:g.36416_36417del, NG_021272.2:g.36417dup, NG_021272.2:g.36416_36417dup, NG_021272.2:g.36417_36418insTTTT, NG_021272.2:g.36417_36418insTTTTTT, XM_047429476.1:c.1688_1689del, XM_047429476.1:c.1689dup, XM_047429476.1:c.1688_1689dup, XM_047429476.1:c.1689_1690insTTTT, XM_047429476.1:c.1689_1690insTTTTTT, XP_047285432.1:p.Phe563fs, XP_047285432.1:p.Leu564fs, XP_047285432.1:p.Leu564fs, XP_047285432.1:p.Leu564fs, XP_047285432.1:p.Phe562_Phe563dup

Select item 14910901498.

rs1491090149 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:57100689 (GRCh38)
12:57494473 (GRCh37)
Canonical SPDI:: NC_000012.12:57100689::G
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00002/1 (GnomAD)
G=0.00034/6 (TOMMO)
HGVS:: NC_000012.12:g.57100689_57100690insG, NC_000012.11:g.57494472_57494473insG, NG_021272.2:g.36450_36451insC, XM_047429476.1:c.1722_1723insC, XP_047285432.1:p.Ser575fs

Select item 14910709049.

rs1491070904 has merged into rs764806212 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGAGA [Show Flanks]
Chromosome:: 12:57100718 (GRCh38)
12:57494501 (GRCh37)
Canonical SPDI:: NC_000012.12:57100716:AGA:A,NC_000012.12:57100716:AGA:AGAGA,NC_000012.12:57100716:AGA:AGAGAGAGA
Gene:: STAT6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_insertion,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.00016/8 (GnomAD)
HGVS:: NC_000012.12:g.57100718_57100719del, NC_000012.12:g.57100718_57100719dup, NC_000012.12:g.57100718GA[4], NC_000012.11:g.57494501_57494502del, NC_000012.11:g.57494501_57494502dup, NC_000012.11:g.57494501GA[4], NG_021272.2:g.36422_36423del, NG_021272.2:g.36422_36423dup, NG_021272.2:g.36422CT[4], XM_047429476.1:c.1694_1695del, XM_047429476.1:c.1694_1695dup, XM_047429476.1:c.1695_1696insCTCTCT, XP_047285432.1:p.Ser565fs, XP_047285432.1:p.Phe566fs, XP_047285432.1:p.Leu564_Ser565dup

Select item 149106538310.

rs1491065383 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGAGA [Show Flanks]
Chromosome:: 12:57100692 (GRCh38)
12:57494475 (GRCh37)
Canonical SPDI:: NC_000012.12:57100690:AGA:A,NC_000012.12:57100690:AGA:AGAGA,NC_000012.12:57100690:AGA:AGAGAGAGA
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.00063/24 (GnomAD)
HGVS:: NC_000012.12:g.57100692_57100693del, NC_000012.12:g.57100692_57100693dup, NC_000012.12:g.57100692GA[4], NC_000012.11:g.57494475_57494476del, NC_000012.11:g.57494475_57494476dup, NC_000012.11:g.57494475GA[4], NG_021272.2:g.36448_36449del, NG_021272.2:g.36448_36449dup, NG_021272.2:g.36448CT[4], XM_047429476.1:c.1720_1721del, XM_047429476.1:c.1720_1721dup, XM_047429476.1:c.1721_1722insCTCTCT, XP_047285432.1:p.Leu574fs, XP_047285432.1:p.Ser575fs, XP_047285432.1:p.Leu574_Ser575dup

Select item 149105566311.

rs1491055663 has merged into rs1228082144 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGAGA [Show Flanks]
Chromosome:: 12:57100696 (GRCh38)
12:57494479 (GRCh37)
Canonical SPDI:: NC_000012.12:57100694:AGA:A,NC_000012.12:57100694:AGA:AGAGA,NC_000012.12:57100694:AGA:AGAGAGAGA
Gene:: STAT6 (Varview)
Functional Consequence:: intron_variant,inframe_insertion,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000012.12:g.57100696_57100697del, NC_000012.12:g.57100696_57100697dup, NC_000012.12:g.57100696GA[4], NC_000012.11:g.57494479_57494480del, NC_000012.11:g.57494479_57494480dup, NC_000012.11:g.57494479GA[4], NG_021272.2:g.36444_36445del, NG_021272.2:g.36444_36445dup, NG_021272.2:g.36444CT[4], XM_047429476.1:c.1716_1717del, XM_047429476.1:c.1716_1717dup, XM_047429476.1:c.1717_1718insCTCTCT, XP_047285432.1:p.Phe573fs, XP_047285432.1:p.Phe573fs, XP_047285432.1:p.Phe573_Leu574insSerLeu

Select item 149104534512.

rs1491045345 has merged into rs200622414 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:57100728 (GRCh38)
12:57494511 (GRCh37)
Canonical SPDI:: NC_000012.12:57100726:AAA:A
Gene:: STAT6 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.57100728_57100729del, NC_000012.11:g.57494511_57494512del, NG_021272.2:g.36412_36413del, XM_047429476.1:c.1684_1685del, XP_047285432.1:p.Phe562fs

Select item 149092843413.

rs1490928434 has merged into rs1214922278 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAATAAATAAAT>-,AAATAAAT,AAATAAATAAATAAAT [Show Flanks]
Chromosome:: 12:57109211 (GRCh38)
12:57502994 (GRCh37)
Canonical SPDI:: NC_000012.12:57109202:AAATAAATAAATAAATAAAT:AAATAAAT,NC_000012.12:57109202:AAATAAATAAATAAATAAAT:AAATAAATAAATAAAT,NC_000012.12:57109202:AAATAAATAAATAAATAAAT:AAATAAATAAATAAATAAATAAAT
Gene:: STAT6 (Varview), LOC124902946 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.57109203AAAT[2], NC_000012.12:g.57109203AAAT[4], NC_000012.12:g.57109203AAAT[6], NC_000012.11:g.57502986AAAT[2], NC_000012.11:g.57502986AAAT[4], NC_000012.11:g.57502986AAAT[6], NG_021272.2:g.27918ATTT[2], NG_021272.2:g.27918ATTT[4], NG_021272.2:g.27918ATTT[6]

Select item 149058134614.

rs1490581346 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAAAGAGAAAGAAAGAAAGAAA>- [Show Flanks]
Chromosome:: 12:57100694 (GRCh38)
12:57494477 (GRCh37)
Canonical SPDI:: NC_000012.12:57100692:AAAGAAAGAGAAAGAAAGAAAGAAA:A
Gene:: STAT6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01425/169 (ALFA)
-=0.054/898 (TOMMO)
-=0.09338/4108 (GnomAD)
HGVS:: NC_000012.12:g.57100694_57100717del, NC_000012.11:g.57494477_57494500del, NG_021272.2:g.36424_36447del, XM_047429476.1:c.1696_1719del, XP_047285432.1:p.Phe566_Phe573del

Select item 149043808115.

rs1490438081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57108883 (GRCh38)
12:57502666 (GRCh37)
Canonical SPDI:: NC_000012.12:57108882:G:A
Gene:: STAT6 (Varview), LOC124902946 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.57108883G>A, NC_000012.11:g.57502666G>A, NG_021272.2:g.28257C>T

Select item 149030821216.

rs1490308212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:57108146 (GRCh38)
12:57501929 (GRCh37)
Canonical SPDI:: NC_000012.12:57108145:G:A,NC_000012.12:57108145:G:T
Gene:: STAT6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000013/3 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.57108146G>A, NC_000012.12:g.57108146G>T, NC_000012.11:g.57501929G>A, NC_000012.11:g.57501929G>T, NG_021272.2:g.28994C>T, NG_021272.2:g.28994C>A

Select item 149015999717.

rs1490159997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:57099675 (GRCh38)
12:57493458 (GRCh37)
Canonical SPDI:: NC_000012.12:57099674:A:T
Gene:: STAT6 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.57099675A>T, NC_000012.11:g.57493458A>T, NG_021272.2:g.37465T>A

Select item 149009255618.

rs1490092556 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGAAAGA>- [Show Flanks]
Chromosome:: 12:57100660 (GRCh38)
12:57494443 (GRCh37)
Canonical SPDI:: NC_000012.12:57100658:AGAAAGAAAGA:A
Gene:: STAT6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000012.12:g.57100660_57100669del, NC_000012.11:g.57494443_57494452del, NG_021272.2:g.36472_36481del, XM_047429476.1:c.1744_1753del, XP_047285432.1:p.Leu582fs

Select item 148999875519.

rs1489998755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57100734 (GRCh38)
12:57494517 (GRCh37)
Canonical SPDI:: NC_000012.12:57100733:G:A
Gene:: STAT6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000011/1 (GnomAD)
A=0.000152/4 (TOMMO)
HGVS:: NC_000012.12:g.57100734G>A, NC_000012.11:g.57494517G>A, NG_021272.2:g.36406C>T, XM_047429476.1:c.1678C>T, XP_047285432.1:p.Leu560Phe

Select item 148964918620.

rs1489649186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57096421 (GRCh38)
12:57490204 (GRCh37)
Canonical SPDI:: NC_000012.12:57096420:C:T
Gene:: STAT6 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57096421C>T, NC_000012.11:g.57490204C>T, NG_021272.2:g.40719G>A, NM_003153.5:c.*151G>A, NM_003153.4:c.*151G>A, NM_001178078.2:c.*151G>A, NM_001178078.1:c.*151G>A, NM_001178079.2:c.*151G>A, NM_001178079.1:c.*151G>A, NM_001178080.2:c.*151G>A, NM_001178080.1:c.*151G>A, NR_033659.2:n.2811G>A, NR_033659.1:n.2862G>A, NM_001178081.2:c.*151G>A, NM_001178081.1:c.*151G>A, XM_047429474.1:c.*151G>A, XM_047429475.1:c.*151G>A, XM_047429473.1:c.*151G>A, XM_047429477.1:c.*151G>A

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