SNP Links for Gene (Select 400720) - SNP

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Select item 14914487021.

rs1491448702 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:57465511 (GRCh38)
19:57976879 (GRCh37)
Canonical SPDI:: NC_000019.10:57465510:AT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0001/6 (GnomAD)
-=0.00021/3 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000019.10:g.57465511_57465512del, NC_000019.9:g.57976879_57976880del

Select item 14913700562.

rs1491370056 has merged into rs55697326 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 19:57468534 (GRCh38)
19:57979902 (GRCh37)
Canonical SPDI:: NC_000019.10:57468522:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:57468522:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:57468522:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57468522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57468522:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2917/175 (NorthernSweden)
HGVS:: NC_000019.10:g.57468534_57468536del, NC_000019.10:g.57468535_57468536del, NC_000019.10:g.57468536del, NC_000019.10:g.57468536dup, NC_000019.10:g.57468535_57468536dup, NC_000019.9:g.57979902_57979904del, NC_000019.9:g.57979903_57979904del, NC_000019.9:g.57979904del, NC_000019.9:g.57979904dup, NC_000019.9:g.57979903_57979904dup, NG_051489.1:g.14046_14048del, NG_051489.1:g.14047_14048del, NG_051489.1:g.14048del, NG_051489.1:g.14048dup, NG_051489.1:g.14047_14048dup

Select item 14912726273.

rs1491272627 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:57468522 (GRCh38)
19:57979890 (GRCh37)
Canonical SPDI:: NC_000019.10:57468521:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.57468522_57468523del, NC_000019.9:g.57979890_57979891del, NG_051489.1:g.14048_14049del

Select item 14911179924.

rs1491117992 has merged into rs61038474 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTTTTTCTTTTTCATCACTAGGTTTTCTTTTTGTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:57465521 (GRCh38)
19:57976889 (GRCh37)
Canonical SPDI:: NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTTTTTCTTTTTCATCACTAGGTTTTCTTTTTGTTTTTTTTTTTTTTTTT,NC_000019.10:57465511:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.2043/1023 (1000Genomes)
HGVS:: NC_000019.10:g.57465521_57465528del, NC_000019.10:g.57465525_57465528del, NC_000019.10:g.57465526_57465528del, NC_000019.10:g.57465527_57465528del, NC_000019.10:g.57465528del, NC_000019.10:g.57465528dup, NC_000019.10:g.57465527_57465528dup, NC_000019.10:g.57465526_57465528dup, NC_000019.10:g.57465519_57465528dup, NC_000019.10:g.57465518_57465528dup, NC_000019.10:g.57465517_57465528dup, NC_000019.10:g.57465516_57465528dup, NC_000019.10:g.57465514_57465528dup, NC_000019.10:g.57465528_57465529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57465512_57465528T[51]CTTT[2]TTCTTTTTCATCACTAGGTTTTCTTTTTGTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.57465528_57465529insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57976889_57976896del, NC_000019.9:g.57976893_57976896del, NC_000019.9:g.57976894_57976896del, NC_000019.9:g.57976895_57976896del, NC_000019.9:g.57976896del, NC_000019.9:g.57976896dup, NC_000019.9:g.57976895_57976896dup, NC_000019.9:g.57976894_57976896dup, NC_000019.9:g.57976887_57976896dup, NC_000019.9:g.57976886_57976896dup, NC_000019.9:g.57976885_57976896dup, NC_000019.9:g.57976884_57976896dup, NC_000019.9:g.57976882_57976896dup, NC_000019.9:g.57976896_57976897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57976880_57976896T[51]CTTT[2]TTCTTTTTCATCACTAGGTTTTCTTTTTGTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.57976896_57976897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910389475.

rs1491038947 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:57481718 (GRCh38)
19:57993086 (GRCh37)
Canonical SPDI:: NC_000019.10:57481716:AGA:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57481718_57481719del, NC_000019.9:g.57993086_57993087del, NG_051489.1:g.853_854del

Select item 14908689306.

rs1490868930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57482431 (GRCh38)
19:57993799 (GRCh37)
Canonical SPDI:: NC_000019.10:57482430:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00514/61 (ALFA)
T=0./0 (SGDP_PRJ)
HGVS:: NC_000019.10:g.57482431T>C, NC_000019.9:g.57993799T>C, NG_051489.1:g.140A>G

Select item 14908379027.

rs1490837902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57465445 (GRCh38)
19:57976813 (GRCh37)
Canonical SPDI:: NC_000019.10:57465444:G:C
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.57465445G>C, NC_000019.9:g.57976813G>C

Select item 14907625148.

rs1490762514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57475330 (GRCh38)
19:57986698 (GRCh37)
Canonical SPDI:: NC_000019.10:57475329:C:T
Gene:: ZNF772 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.57475330C>T, NC_000019.9:g.57986698C>T, NG_051489.1:g.7241G>A

Select item 14906735049.

rs1490673504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57465853 (GRCh38)
19:57977221 (GRCh37)
Canonical SPDI:: NC_000019.10:57465852:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.57465853A>G, NC_000019.9:g.57977221A>G

Select item 149036509110.

rs1490365091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:57473217 (GRCh38)
19:57984585 (GRCh37)
Canonical SPDI:: NC_000019.10:57473216:A:C
Gene:: ZNF772 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57473217A>C, NC_000019.9:g.57984585A>C, NG_051489.1:g.9354T>G, NM_001024596.3:c.*57T>G, NM_001024596.2:c.*57T>G, NM_001144068.2:c.*57T>G, NM_001144068.1:c.*57T>G, NM_001330613.2:c.*57T>G, NM_001330613.1:c.*57T>G, XM_005258944.5:c.*57T>G, XM_005258944.4:c.*57T>G, XM_005258944.3:c.*57T>G, XM_005258944.2:c.*57T>G, XM_005258944.1:c.*57T>G, XM_011526980.4:c.*57T>G, XM_011526980.3:c.*57T>G, XM_011526980.2:c.*57T>G, XM_011526980.1:c.*57T>G

Select item 148995847511.

rs1489958475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:57473419 (GRCh38)
19:57984787 (GRCh37)
Canonical SPDI:: NC_000019.10:57473418:G:C,NC_000019.10:57473418:G:T
Gene:: ZNF772 (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=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57473419G>C, NC_000019.10:g.57473419G>T, NC_000019.9:g.57984787G>C, NC_000019.9:g.57984787G>T, NG_051489.1:g.9152C>G, NG_051489.1:g.9152C>A, NM_001024596.3:c.1325C>G, NM_001024596.3:c.1325C>A, NM_001024596.2:c.1325C>G, NM_001024596.2:c.1325C>A, NM_001144068.2:c.1202C>G, NM_001144068.2:c.1202C>A, NM_001144068.1:c.1202C>G, NM_001144068.1:c.1202C>A, NM_001330613.2:c.989C>G, NM_001330613.2:c.989C>A, NM_001330613.1:c.989C>G, NM_001330613.1:c.989C>A, XM_005258944.5:c.989C>G, XM_005258944.5:c.989C>A, XM_005258944.4:c.989C>G, XM_005258944.4:c.989C>A, XM_005258944.3:c.989C>G, XM_005258944.3:c.989C>A, XM_005258944.2:c.989C>G, XM_005258944.2:c.989C>A, XM_005258944.1:c.989C>G, XM_005258944.1:c.989C>A, XM_011526980.4:c.1160C>G, XM_011526980.4:c.1160C>A, XM_011526980.3:c.1160C>G, XM_011526980.3:c.1160C>A, XM_011526980.2:c.1160C>G, XM_011526980.2:c.1160C>A, XM_011526980.1:c.1160C>G, XM_011526980.1:c.1160C>A, NP_001019767.1:p.Ala442Gly, NP_001019767.1:p.Ala442Asp, NP_001137540.1:p.Ala401Gly, NP_001137540.1:p.Ala401Asp, NP_001317542.1:p.Ala330Gly, NP_001317542.1:p.Ala330Asp, XP_005259001.1:p.Ala330Gly, XP_005259001.1:p.Ala330Asp, XP_011525282.1:p.Ala387Gly, XP_011525282.1:p.Ala387Asp

Select item 148988585112.

rs1489885851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57482741 (GRCh38)
19:57994109 (GRCh37)
Canonical SPDI:: NC_000019.10:57482740:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.57482741A>G, NC_000019.9:g.57994109A>G, NG_054882.1:g.31A>G

Select item 148956688213.

rs1489566882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57466953 (GRCh38)
19:57978321 (GRCh37)
Canonical SPDI:: NC_000019.10:57466952:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.57466953G>A, NC_000019.9:g.57978321G>A

Select item 148940696114.

rs1489406961 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:57466493 (GRCh38)
19:57977861 (GRCh37)
Canonical SPDI:: NC_000019.10:57466489:TCTCT:TCT
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000019.10:g.57466491CT[1], NC_000019.9:g.57977859CT[1]

Select item 148923386915.

rs1489233869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57479528 (GRCh38)
19:57990896 (GRCh37)
Canonical SPDI:: NC_000019.10:57479527:A:G
Gene:: ZNF772 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57479528A>G, NC_000019.9:g.57990896A>G, NG_051489.1:g.3043T>C

Select item 148919035716.

rs1489190357 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAATAATATAGATATTATTCTCCAATGT [Show Flanks]
Chromosome:: 19:57482248 (GRCh38)
19:57993617 (GRCh37)
Canonical SPDI:: NC_000019.10:57482248:ATATTATTCTCCAATGT:ATATTATTCTCCAATGTAGAATAATATAGATATTATTCTCCAATGT
Validated:: by frequency,by alfa
MAF:: ATATTATTCTCCAATGTAGAATAATATAGATATTATTCTCCAATGT=0.000224/1 (ALFA)
ATATTATTCTCCAATGTAGAATAATATAG=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57482249_57482265AT[2]TATTCTCCAATGTAGAATAATATAGATATTATTCTCCAATGT[1], NC_000019.9:g.57993617_57993633AT[2]TATTCTCCAATGTAGAATAATATAGATATTATTCTCCAATGT[1], NG_051489.1:g.322_323insCTATATTATTCTACATTGGAGAATAATAT

Select item 148883236317.

rs1488832363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:57476153 (GRCh38)
19:57987521 (GRCh37)
Canonical SPDI:: NC_000019.10:57476152:T:A
Gene:: ZNF772 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57476153T>A, NC_000019.9:g.57987521T>A, NG_051489.1:g.6418A>T

Select item 148835354618.

rs1488353546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57469098 (GRCh38)
19:57980466 (GRCh37)
Canonical SPDI:: NC_000019.10:57469097:A:G
Gene:: ZNF772 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57469098A>G, NC_000019.9:g.57980466A>G, NG_051489.1:g.13473T>C

Select item 148823374719.

rs1488233747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:57472660 (GRCh38)
19:57984028 (GRCh37)
Canonical SPDI:: NC_000019.10:57472659:C:A,NC_000019.10:57472659:C:G
Gene:: ZNF772 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.57472660C>A, NC_000019.10:g.57472660C>G, NC_000019.9:g.57984028C>A, NC_000019.9:g.57984028C>G, NG_051489.1:g.9911G>T, NG_051489.1:g.9911G>C, NM_001024596.3:c.*614G>T, NM_001024596.3:c.*614G>C, NM_001024596.2:c.*614G>T, NM_001024596.2:c.*614G>C, NM_001144068.2:c.*614G>T, NM_001144068.2:c.*614G>C, NM_001144068.1:c.*614G>T, NM_001144068.1:c.*614G>C, NM_001330613.2:c.*614G>T, NM_001330613.2:c.*614G>C, NM_001330613.1:c.*614G>T, NM_001330613.1:c.*614G>C, XM_005258944.5:c.*614G>T, XM_005258944.5:c.*614G>C, XM_005258944.4:c.*614G>T, XM_005258944.4:c.*614G>C, XM_005258944.3:c.*614G>T, XM_005258944.3:c.*614G>C, XM_005258944.2:c.*614G>T, XM_005258944.2:c.*614G>C, XM_005258944.1:c.*614G>T, XM_005258944.1:c.*614G>C, XM_011526980.4:c.*614G>T, XM_011526980.4:c.*614G>C, XM_011526980.3:c.*614G>T, XM_011526980.3:c.*614G>C, XM_011526980.2:c.*614G>T, XM_011526980.2:c.*614G>C, XM_011526980.1:c.*614G>T, XM_011526980.1:c.*614G>C

Select item 148822254420.

rs1488222544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57475818 (GRCh38)
19:57987186 (GRCh37)
Canonical SPDI:: NC_000019.10:57475817:C:G
Gene:: ZNF772 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57475818C>G, NC_000019.9:g.57987186C>G, NG_051489.1:g.6753G>C

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