SNP Links for Gene (Select 9851) - SNP

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Select item 14915789781.

rs1491578978 [Homo sapiens]

Variant type:: SNV:
Alleles:: TA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915481252.

rs1491548125 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:6591063 (GRCh38)
17:6494383 (GRCh37)
Canonical SPDI:: NC_000017.11:6591062:AA:
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.6591063_6591064del, NC_000017.10:g.6494383_6494384del, NG_054885.1:g.54864_54865del

Select item 14914201413.

rs1491420141 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:6615614 (GRCh38)
17:6518934 (GRCh37)
Canonical SPDI:: NC_000017.11:6615613:CA:
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.6615614_6615615del, NC_000017.10:g.6518934_6518935del, NG_054885.1:g.30313_30314del

Select item 14912518404.

rs1491251840 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:6591053 (GRCh38)
17:6494373 (GRCh37)
Canonical SPDI:: NC_000017.11:6591051:AGA:A
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.6591053_6591054del, NC_000017.10:g.6494373_6494374del, NG_054885.1:g.54875_54876del

Select item 14912297615.

rs1491229761 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 17:6594277 (GRCh38)
17:6497597 (GRCh37)
Canonical SPDI:: NC_000017.11:6594276:AC:
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.6594277_6594278del, NC_000017.10:g.6497597_6497598del, NG_054885.1:g.51650_51651del

Select item 14912016006.

rs1491201600 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:6600291 (GRCh38)
17:6503612 (GRCh37)
Canonical SPDI:: NC_000017.11:6600291:A:AA
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.6600292dup, NC_000017.10:g.6503612dup, NG_054885.1:g.45636dup

Select item 14911882567.

rs1491188256 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 17:6610343 (GRCh38)
17:6513664 (GRCh37)
Canonical SPDI:: NC_000017.11:6610343::C,NC_000017.11:6610343::G
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00014/4 (TOMMO)
HGVS:: NC_000017.11:g.6610343_6610344insC, NC_000017.11:g.6610343_6610344insG, NC_000017.10:g.6513663_6513664insC, NC_000017.10:g.6513663_6513664insG, NG_054885.1:g.35584_35585insG, NG_054885.1:g.35584_35585insC

Select item 14911508148.

rs1491150814 has merged into rs71157206 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:6610523 (GRCh38)
17:6513843 (GRCh37)
Canonical SPDI:: NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:6610516:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.6610523_6610536del, NC_000017.11:g.6610526_6610536del, NC_000017.11:g.6610528_6610536del, NC_000017.11:g.6610530_6610536del, NC_000017.11:g.6610531_6610536del, NC_000017.11:g.6610532_6610536del, NC_000017.11:g.6610533_6610536del, NC_000017.11:g.6610534_6610536del, NC_000017.11:g.6610535_6610536del, NC_000017.11:g.6610536del, NC_000017.11:g.6610536dup, NC_000017.11:g.6610535_6610536dup, NC_000017.11:g.6610534_6610536dup, NC_000017.11:g.6610533_6610536dup, NC_000017.11:g.6610532_6610536dup, NC_000017.11:g.6610531_6610536dup, NC_000017.11:g.6610530_6610536dup, NC_000017.11:g.6610529_6610536dup, NC_000017.11:g.6610526_6610536dup, NC_000017.11:g.6610525_6610536dup, NC_000017.11:g.6610524_6610536dup, NC_000017.11:g.6610523_6610536dup, NC_000017.11:g.6610517_6610536dup, NC_000017.10:g.6513843_6513856del, NC_000017.10:g.6513846_6513856del, NC_000017.10:g.6513848_6513856del, NC_000017.10:g.6513850_6513856del, NC_000017.10:g.6513851_6513856del, NC_000017.10:g.6513852_6513856del, NC_000017.10:g.6513853_6513856del, NC_000017.10:g.6513854_6513856del, NC_000017.10:g.6513855_6513856del, NC_000017.10:g.6513856del, NC_000017.10:g.6513856dup, NC_000017.10:g.6513855_6513856dup, NC_000017.10:g.6513854_6513856dup, NC_000017.10:g.6513853_6513856dup, NC_000017.10:g.6513852_6513856dup, NC_000017.10:g.6513851_6513856dup, NC_000017.10:g.6513850_6513856dup, NC_000017.10:g.6513849_6513856dup, NC_000017.10:g.6513846_6513856dup, NC_000017.10:g.6513845_6513856dup, NC_000017.10:g.6513844_6513856dup, NC_000017.10:g.6513843_6513856dup, NC_000017.10:g.6513837_6513856dup, NG_054885.1:g.35398_35411del, NG_054885.1:g.35401_35411del, NG_054885.1:g.35403_35411del, NG_054885.1:g.35405_35411del, NG_054885.1:g.35406_35411del, NG_054885.1:g.35407_35411del, NG_054885.1:g.35408_35411del, NG_054885.1:g.35409_35411del, NG_054885.1:g.35410_35411del, NG_054885.1:g.35411del, NG_054885.1:g.35411dup, NG_054885.1:g.35410_35411dup, NG_054885.1:g.35409_35411dup, NG_054885.1:g.35408_35411dup, NG_054885.1:g.35407_35411dup, NG_054885.1:g.35406_35411dup, NG_054885.1:g.35405_35411dup, NG_054885.1:g.35404_35411dup, NG_054885.1:g.35401_35411dup, NG_054885.1:g.35400_35411dup, NG_054885.1:g.35399_35411dup, NG_054885.1:g.35398_35411dup, NG_054885.1:g.35392_35411dup

Select item 14911174109.

rs1491117410 has merged into rs34010703 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 17:6594286 (GRCh38)
17:6497606 (GRCh37)
Canonical SPDI:: NC_000017.11:6594277:CCCCCCCCCCC:CCCCCCCC,NC_000017.11:6594277:CCCCCCCCCCC:CCCCCCCCC,NC_000017.11:6594277:CCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:6594277:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:6594277:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:6594277:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
CC=0.2843/1424 (1000Genomes)
CC=0.3524/1358 (ALSPAC)
HGVS:: NC_000017.11:g.6594286_6594288del, NC_000017.11:g.6594287_6594288del, NC_000017.11:g.6594288del, NC_000017.11:g.6594288dup, NC_000017.11:g.6594287_6594288dup, NC_000017.11:g.6594286_6594288dup, NC_000017.10:g.6497606_6497608del, NC_000017.10:g.6497607_6497608del, NC_000017.10:g.6497608del, NC_000017.10:g.6497608dup, NC_000017.10:g.6497607_6497608dup, NC_000017.10:g.6497606_6497608dup, NG_054885.1:g.51648_51650del, NG_054885.1:g.51649_51650del, NG_054885.1:g.51650del, NG_054885.1:g.51650dup, NG_054885.1:g.51649_51650dup, NG_054885.1:g.51648_51650dup

Select item 149111279710.

rs1491112797 has merged into rs34769605 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 17:6614515 (GRCh38)
17:6517835 (GRCh37)
Canonical SPDI:: NC_000017.11:6614507:GGGGGGGGG:GGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGGGGG
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
-=0.3791/1396 (1000Genomes)
HGVS:: NC_000017.11:g.6614515_6614516del, NC_000017.11:g.6614516del, NC_000017.11:g.6614516dup, NC_000017.11:g.6614515_6614516dup, NC_000017.11:g.6614514_6614516dup, NC_000017.11:g.6614513_6614516dup, NC_000017.10:g.6517835_6517836del, NC_000017.10:g.6517836del, NC_000017.10:g.6517836dup, NC_000017.10:g.6517835_6517836dup, NC_000017.10:g.6517834_6517836dup, NC_000017.10:g.6517833_6517836dup, NG_054885.1:g.31419_31420del, NG_054885.1:g.31420del, NG_054885.1:g.31420dup, NG_054885.1:g.31419_31420dup, NG_054885.1:g.31418_31420dup, NG_054885.1:g.31417_31420dup

Select item 149109371011.

rs1491093710 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAGAAGAAG
Chromosome:: no mapping
Canonical SPDI:

Select item 149105773112.

rs1491057731 has merged into rs34769605 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 17:6614515 (GRCh38)
17:6517835 (GRCh37)
Canonical SPDI:: NC_000017.11:6614507:GGGGGGGGG:GGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:6614507:GGGGGGGGG:GGGGGGGGGGGGG
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
-=0.3791/1396 (1000Genomes)
HGVS:: NC_000017.11:g.6614515_6614516del, NC_000017.11:g.6614516del, NC_000017.11:g.6614516dup, NC_000017.11:g.6614515_6614516dup, NC_000017.11:g.6614514_6614516dup, NC_000017.11:g.6614513_6614516dup, NC_000017.10:g.6517835_6517836del, NC_000017.10:g.6517836del, NC_000017.10:g.6517836dup, NC_000017.10:g.6517835_6517836dup, NC_000017.10:g.6517834_6517836dup, NC_000017.10:g.6517833_6517836dup, NG_054885.1:g.31419_31420del, NG_054885.1:g.31420del, NG_054885.1:g.31420dup, NG_054885.1:g.31419_31420dup, NG_054885.1:g.31418_31420dup, NG_054885.1:g.31417_31420dup

Select item 149090559213.

rs1490905592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:6597154 (GRCh38)
17:6500474 (GRCh37)
Canonical SPDI:: NC_000017.11:6597153:A:C
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.6597154A>C, NC_000017.10:g.6500474A>C, NG_054885.1:g.48774T>G

Select item 149088029714.

rs1490880297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6614307 (GRCh38)
17:6517627 (GRCh37)
Canonical SPDI:: NC_000017.11:6614306:C:T
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000017.11:g.6614307C>T, NC_000017.10:g.6517627C>T, NG_054885.1:g.31621G>A

Select item 149079862915.

rs1490798629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:6595941 (GRCh38)
17:6499261 (GRCh37)
Canonical SPDI:: NC_000017.11:6595940:G:A
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.6595941G>A, NC_000017.10:g.6499261G>A, NG_054885.1:g.49987C>T

Select item 149075593516.

rs1490755935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6621809 (GRCh38)
17:6525129 (GRCh37)
Canonical SPDI:: NC_000017.11:6621808:C:T
Gene:: KIAA0753 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6621809C>T, NC_000017.10:g.6525129C>T, NG_054885.1:g.24119G>A

Select item 149073200417.

rs1490732004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:6636879 (GRCh38)
17:6540199 (GRCh37)
Canonical SPDI:: NC_000017.11:6636878:C:T
Gene:: KIAA0753 (Varview), LOC122526780 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.6636879C>T, NC_000017.10:g.6540199C>T, NG_054885.1:g.9049G>A, NM_001396008.1:c.3438G>A

Select item 149070177318.

rs1490701773 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:6598821 (GRCh38)
17:6502141 (GRCh37)
Canonical SPDI:: NC_000017.11:6598820:CA:
Gene:: KIAA0753 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.6598821_6598822del, NC_000017.10:g.6502141_6502142del, NG_054885.1:g.47106_47107del

Select item 149059251119.

rs1490592511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:6622296 (GRCh38)
17:6525616 (GRCh37)
Canonical SPDI:: NC_000017.11:6622295:T:A,NC_000017.11:6622295:T:C
Gene:: KIAA0753 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.6622296T>A, NC_000017.11:g.6622296T>C, NC_000017.10:g.6525616T>A, NC_000017.10:g.6525616T>C, NG_054885.1:g.23632A>T, NG_054885.1:g.23632A>G

Select item 149059248020.

rs1490592480 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCATCCTCTGAAGCCCCCACTCCC>- [Show Flanks]
Chromosome:: 17:6637111 (GRCh38)
17:6540431 (GRCh37)
Canonical SPDI:: NC_000017.11:6637109:CTCATCCTCTGAAGCCCCCACTCCC:C
Gene:: KIAA0753 (Varview), LOC122526780 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
-=0.00022/1 (Estonian)
HGVS:: NC_000017.11:g.6637111_6637134del, NC_000017.10:g.6540431_6540454del, NG_054885.1:g.8795_8818del, NM_001396008.1:c.3184_3207del, NP_001382937.1:p.Gly1062_Glu1069del

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