SNP Links for Gene (Select 84078) - SNP

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Select item 14915026571.

rs1491502657 has merged into rs5803082 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 13:41191403 (GRCh38)
13:41765539 (GRCh37)
Canonical SPDI:: NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3502/1754 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000013.11:g.41191403_41191407del, NC_000013.11:g.41191404_41191407del, NC_000013.11:g.41191405_41191407del, NC_000013.11:g.41191406_41191407del, NC_000013.11:g.41191407del, NC_000013.11:g.41191407dup, NC_000013.11:g.41191406_41191407dup, NC_000013.11:g.41191405_41191407dup, NC_000013.11:g.41191404_41191407dup, NC_000013.10:g.41765539_41765543del, NC_000013.10:g.41765540_41765543del, NC_000013.10:g.41765541_41765543del, NC_000013.10:g.41765542_41765543del, NC_000013.10:g.41765543del, NC_000013.10:g.41765543dup, NC_000013.10:g.41765542_41765543dup, NC_000013.10:g.41765541_41765543dup, NC_000013.10:g.41765540_41765543dup, NG_053142.1:g.8190_8194del, NG_053142.1:g.8191_8194del, NG_053142.1:g.8192_8194del, NG_053142.1:g.8193_8194del, NG_053142.1:g.8194del, NG_053142.1:g.8194dup, NG_053142.1:g.8193_8194dup, NG_053142.1:g.8192_8194dup, NG_053142.1:g.8191_8194dup, NM_032138.7:c.*808_*812del, NM_032138.7:c.*809_*812del, NM_032138.7:c.*810_*812del, NM_032138.7:c.*811_*812del, NM_032138.7:c.*812del, NM_032138.7:c.*812dup, NM_032138.7:c.*811_*812dup, NM_032138.7:c.*810_*812dup, NM_032138.7:c.*809_*812dup, NM_032138.6:c.*808_*812del, NM_032138.6:c.*809_*812del, NM_032138.6:c.*810_*812del, NM_032138.6:c.*811_*812del, NM_032138.6:c.*812del, NM_032138.6:c.*812dup, NM_032138.6:c.*811_*812dup, NM_032138.6:c.*810_*812dup, NM_032138.6:c.*809_*812dup, NM_032138.5:c.*808_*812del, NM_032138.5:c.*809_*812del, NM_032138.5:c.*810_*812del, NM_032138.5:c.*811_*812del, NM_032138.5:c.*812del, NM_032138.5:c.*812dup, NM_032138.5:c.*811_*812dup, NM_032138.5:c.*810_*812dup, NM_032138.5:c.*809_*812dup

Select item 14910060962.

rs1491006096 has merged into rs5803082 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 13:41191403 (GRCh38)
13:41765539 (GRCh37)
Canonical SPDI:: NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:41191390:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3502/1754 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000013.11:g.41191403_41191407del, NC_000013.11:g.41191404_41191407del, NC_000013.11:g.41191405_41191407del, NC_000013.11:g.41191406_41191407del, NC_000013.11:g.41191407del, NC_000013.11:g.41191407dup, NC_000013.11:g.41191406_41191407dup, NC_000013.11:g.41191405_41191407dup, NC_000013.11:g.41191404_41191407dup, NC_000013.10:g.41765539_41765543del, NC_000013.10:g.41765540_41765543del, NC_000013.10:g.41765541_41765543del, NC_000013.10:g.41765542_41765543del, NC_000013.10:g.41765543del, NC_000013.10:g.41765543dup, NC_000013.10:g.41765542_41765543dup, NC_000013.10:g.41765541_41765543dup, NC_000013.10:g.41765540_41765543dup, NG_053142.1:g.8190_8194del, NG_053142.1:g.8191_8194del, NG_053142.1:g.8192_8194del, NG_053142.1:g.8193_8194del, NG_053142.1:g.8194del, NG_053142.1:g.8194dup, NG_053142.1:g.8193_8194dup, NG_053142.1:g.8192_8194dup, NG_053142.1:g.8191_8194dup, NM_032138.7:c.*808_*812del, NM_032138.7:c.*809_*812del, NM_032138.7:c.*810_*812del, NM_032138.7:c.*811_*812del, NM_032138.7:c.*812del, NM_032138.7:c.*812dup, NM_032138.7:c.*811_*812dup, NM_032138.7:c.*810_*812dup, NM_032138.7:c.*809_*812dup, NM_032138.6:c.*808_*812del, NM_032138.6:c.*809_*812del, NM_032138.6:c.*810_*812del, NM_032138.6:c.*811_*812del, NM_032138.6:c.*812del, NM_032138.6:c.*812dup, NM_032138.6:c.*811_*812dup, NM_032138.6:c.*810_*812dup, NM_032138.6:c.*809_*812dup, NM_032138.5:c.*808_*812del, NM_032138.5:c.*809_*812del, NM_032138.5:c.*810_*812del, NM_032138.5:c.*811_*812del, NM_032138.5:c.*812del, NM_032138.5:c.*812dup, NM_032138.5:c.*811_*812dup, NM_032138.5:c.*810_*812dup, NM_032138.5:c.*809_*812dup

Select item 14906292023.

rs1490629202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:41195455 (GRCh38)
13:41769591 (GRCh37)
Canonical SPDI:: NC_000013.11:41195454:G:A
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41195455G>A, NC_000013.10:g.41769591G>A, NG_053142.1:g.4130C>T

Select item 14903326184.

rs1490332618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41192816 (GRCh38)
13:41766952 (GRCh37)
Canonical SPDI:: NC_000013.11:41192815:A:G
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41192816A>G, NC_000013.10:g.41766952A>G, NG_053142.1:g.6769T>C, NM_032138.7:c.1442T>C, NM_032138.6:c.1442T>C, NM_032138.5:c.1442T>C, NM_032138.4:c.1442T>C, NP_115514.2:p.Val481Ala

Select item 14894753755.

rs1489475375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:41195160 (GRCh38)
13:41769296 (GRCh37)
Canonical SPDI:: NC_000013.11:41195159:T:A,NC_000013.11:41195159:T:C
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.41195160T>A, NC_000013.11:g.41195160T>C, NC_000013.10:g.41769296T>A, NC_000013.10:g.41769296T>C, NG_053142.1:g.4425A>T, NG_053142.1:g.4425A>G

Select item 14892402496.

rs1489240249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41192383 (GRCh38)
13:41766519 (GRCh37)
Canonical SPDI:: NC_000013.11:41192382:A:G
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.41192383A>G, NC_000013.10:g.41766519A>G, NG_053142.1:g.7202T>C, NM_032138.7:c.1875T>C, NM_032138.6:c.1875T>C, NM_032138.5:c.1875T>C, NM_032138.4:c.1875T>C

Select item 14891944137.

rs1489194413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:41190784 (GRCh38)
13:41764920 (GRCh37)
Canonical SPDI:: NC_000013.11:41190783:C:T
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41190784C>T, NC_000013.10:g.41764920C>T, NG_053142.1:g.8801G>A, NM_032138.7:c.*1419G>A, NM_032138.6:c.*1419G>A

Select item 14887579758.

rs1488757975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:41192959 (GRCh38)
13:41767095 (GRCh37)
Canonical SPDI:: NC_000013.11:41192958:G:A
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.41192959G>A, NC_000013.10:g.41767095G>A, NG_053142.1:g.6626C>T, NM_032138.7:c.1299C>T, NM_032138.6:c.1299C>T, NM_032138.5:c.1299C>T, NM_032138.4:c.1299C>T

Select item 14886958069.

rs1488695806 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAG>- [Show Flanks]
Chromosome:: 13:41191765 (GRCh38)
13:41765901 (GRCh37)
Canonical SPDI:: NC_000013.11:41191761:AAGGAAAG:AAG
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.41191765_41191769del, NC_000013.10:g.41765901_41765905del, NG_053142.1:g.7819_7823del, NM_032138.7:c.*437_*441del, NM_032138.6:c.*437_*441del, NM_032138.5:c.*437_*441del, NM_032138.4:c.*437_*441del

Select item 148810645610.

rs1488106456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:41194151 (GRCh38)
13:41768287 (GRCh37)
Canonical SPDI:: NC_000013.11:41194150:C:T
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.41194151C>T, NC_000013.10:g.41768287C>T, NG_053142.1:g.5434G>A, NM_032138.7:c.107G>A, NM_032138.6:c.107G>A, NM_032138.5:c.107G>A, NM_032138.4:c.107G>A, NP_115514.2:p.Gly36Asp

Select item 148668581611.

rs1486685816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:41189655 (GRCh38)
13:41763791 (GRCh37)
Canonical SPDI:: NC_000013.11:41189654:C:G
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.41189655C>G, NC_000013.10:g.41763791C>G, NG_053142.1:g.9930G>C

Select item 148642414912.

rs1486424149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:41194206 (GRCh38)
13:41768342 (GRCh37)
Canonical SPDI:: NC_000013.11:41194205:C:T
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.41194206C>T, NC_000013.10:g.41768342C>T, NG_053142.1:g.5379G>A, NM_032138.7:c.52G>A, NM_032138.6:c.52G>A, NM_032138.5:c.52G>A, NM_032138.4:c.52G>A, NP_115514.2:p.Gly18Ser

Select item 148622429013.

rs1486224290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41190866 (GRCh38)
13:41765002 (GRCh37)
Canonical SPDI:: NC_000013.11:41190865:A:G
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.41190866A>G, NC_000013.10:g.41765002A>G, NG_053142.1:g.8719T>C, NM_032138.7:c.*1337T>C, NM_032138.6:c.*1337T>C

Select item 148442188414.

rs1484421884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:41191779 (GRCh38)
13:41765915 (GRCh37)
Canonical SPDI:: NC_000013.11:41191778:T:C
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,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_000013.11:g.41191779T>C, NC_000013.10:g.41765915T>C, NG_053142.1:g.7806A>G, NM_032138.7:c.*424A>G, NM_032138.6:c.*424A>G, NM_032138.5:c.*424A>G, NM_032138.4:c.*424A>G

Select item 148440669215.

rs1484406692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41191517 (GRCh38)
13:41765653 (GRCh37)
Canonical SPDI:: NC_000013.11:41191516:A:G
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00035/6 (TOMMO)
HGVS:: NC_000013.11:g.41191517A>G, NC_000013.10:g.41765653A>G, NG_053142.1:g.8068T>C, NM_032138.7:c.*686T>C, NM_032138.6:c.*686T>C, NM_032138.5:c.*686T>C

Select item 148416576716.

rs1484165767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:41195914 (GRCh38)
13:41770050 (GRCh37)
Canonical SPDI:: NC_000013.11:41195913:T:C
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.41195914T>C, NC_000013.10:g.41770050T>C, NG_053142.1:g.3671A>G

Select item 148415653317.

rs1484156533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:41196123 (GRCh38)
13:41770259 (GRCh37)
Canonical SPDI:: NC_000013.11:41196122:T:C
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.41196123T>C, NC_000013.10:g.41770259T>C, NG_053142.1:g.3462A>G

Select item 148334575818.

rs1483345758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:41194003 (GRCh38)
13:41768139 (GRCh37)
Canonical SPDI:: NC_000013.11:41194002:A:G
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000013.11:g.41194003A>G, NC_000013.10:g.41768139A>G, NG_053142.1:g.5582T>C, NM_032138.7:c.255T>C, NM_032138.6:c.255T>C, NM_032138.5:c.255T>C, NM_032138.4:c.255T>C

Select item 148244559719.

rs1482445597 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 13:41190369 (GRCh38)
13:41764505 (GRCh37)
Canonical SPDI:: NC_000013.11:41190368:GG:G
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.41190370del, NC_000013.10:g.41764506del, NG_053142.1:g.9216del, NM_032138.7:c.*1834del, NM_032138.6:c.*1834del

Select item 148084877820.

rs1480848778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:41195193 (GRCh38)
13:41769329 (GRCh37)
Canonical SPDI:: NC_000013.11:41195192:C:T
Gene:: KBTBD7 (Varview), LOC101929140 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000013.11:g.41195193C>T, NC_000013.10:g.41769329C>T, NG_053142.1:g.4392G>A

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