SNP Links for Gene (Select 100507171) - SNP

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Select item 14912368541.

rs1491236854 has merged into rs56768895 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:74150055 (GRCh38)
2:74377182 (GRCh37)
Canonical SPDI:: NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74150043:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BOLA3-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.74150055_74150061del, NC_000002.12:g.74150057_74150061del, NC_000002.12:g.74150058_74150061del, NC_000002.12:g.74150059_74150061del, NC_000002.12:g.74150060_74150061del, NC_000002.12:g.74150061del, NC_000002.12:g.74150061dup, NC_000002.12:g.74150060_74150061dup, NC_000002.12:g.74150059_74150061dup, NC_000002.12:g.74150058_74150061dup, NC_000002.12:g.74150057_74150061dup, NC_000002.12:g.74150056_74150061dup, NC_000002.12:g.74150055_74150061dup, NC_000002.12:g.74150054_74150061dup, NC_000002.11:g.74377182_74377188del, NC_000002.11:g.74377184_74377188del, NC_000002.11:g.74377185_74377188del, NC_000002.11:g.74377186_74377188del, NC_000002.11:g.74377187_74377188del, NC_000002.11:g.74377188del, NC_000002.11:g.74377188dup, NC_000002.11:g.74377187_74377188dup, NC_000002.11:g.74377186_74377188dup, NC_000002.11:g.74377185_74377188dup, NC_000002.11:g.74377184_74377188dup, NC_000002.11:g.74377183_74377188dup, NC_000002.11:g.74377182_74377188dup, NC_000002.11:g.74377181_74377188dup, NG_031910.1:g.2863_2869del, NG_031910.1:g.2865_2869del, NG_031910.1:g.2866_2869del, NG_031910.1:g.2867_2869del, NG_031910.1:g.2868_2869del, NG_031910.1:g.2869del, NG_031910.1:g.2869dup, NG_031910.1:g.2868_2869dup, NG_031910.1:g.2867_2869dup, NG_031910.1:g.2866_2869dup, NG_031910.1:g.2865_2869dup, NG_031910.1:g.2864_2869dup, NG_031910.1:g.2863_2869dup, NG_031910.1:g.2862_2869dup, NR_045634.1:n.1856_1862del, NR_045634.1:n.1858_1862del, NR_045634.1:n.1859_1862del, NR_045634.1:n.1860_1862del, NR_045634.1:n.1861_1862del, NR_045634.1:n.1862del, NR_045634.1:n.1862dup, NR_045634.1:n.1861_1862dup, NR_045634.1:n.1860_1862dup, NR_045634.1:n.1859_1862dup, NR_045634.1:n.1858_1862dup, NR_045634.1:n.1857_1862dup, NR_045634.1:n.1856_1862dup, NR_045634.1:n.1855_1862dup, NR_045636.1:n.1730_1736del, NR_045636.1:n.1732_1736del, NR_045636.1:n.1733_1736del, NR_045636.1:n.1734_1736del, NR_045636.1:n.1735_1736del, NR_045636.1:n.1736del, NR_045636.1:n.1736dup, NR_045636.1:n.1735_1736dup, NR_045636.1:n.1734_1736dup, NR_045636.1:n.1733_1736dup, NR_045636.1:n.1732_1736dup, NR_045636.1:n.1731_1736dup, NR_045636.1:n.1730_1736dup, NR_045636.1:n.1729_1736dup

Select item 14911465762.

rs1491146576 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:74150043 (GRCh38)
2:74377170 (GRCh37)
Canonical SPDI:: NC_000002.12:74150042:CA:
Gene:: BOLA3-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.74150043_74150044del, NC_000002.11:g.74377170_74377171del, NG_031910.1:g.2869_2870del, NR_045634.1:n.1844_1845del, NR_045636.1:n.1718_1719del

Select item 14911027293.

rs1491102729 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:74147520 (GRCh38)
2:74374647 (GRCh37)
Canonical SPDI:: NC_000002.12:74147519:CT:
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74147520_74147521del, NC_000002.11:g.74374647_74374648del, NG_031910.1:g.5392_5393del

Select item 14908311414.

rs1490831141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74148924 (GRCh38)
2:74376051 (GRCh37)
Canonical SPDI:: NC_000002.12:74148923:A:G
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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_000002.12:g.74148924A>G, NC_000002.11:g.74376051A>G, NG_031910.1:g.3989T>C, NR_045634.1:n.725A>G, NR_045636.1:n.599A>G, NR_045637.1:n.529A>G

Select item 14907439875.

rs1490743987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:74147201 (GRCh38)
2:74374328 (GRCh37)
Canonical SPDI:: NC_000002.12:74147200:C:A
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74147201C>A, NC_000002.11:g.74374328C>A, NG_031910.1:g.5712G>T

Select item 14907211386.

rs1490721138 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:74150912 (GRCh38)
2:74378039 (GRCh37)
Canonical SPDI:: NC_000002.12:74150911:AAAAA:AAAA
Gene:: BOLA3-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.74150916del, NC_000002.11:g.74378043del, NG_031910.1:g.2001del, NR_045634.1:n.2717del, NR_045636.1:n.2591del

Select item 14907060887.

rs1490706088 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:74148608 (GRCh38)
2:74375735 (GRCh37)
Canonical SPDI:: NC_000002.12:74148607:CA:
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74148608_74148609del, NC_000002.11:g.74375735_74375736del, NG_031910.1:g.4304_4305del

Select item 14880510478.

rs1488051047 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14879534029.

rs1487953402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:74150851 (GRCh38)
2:74377978 (GRCh37)
Canonical SPDI:: NC_000002.12:74150850:T:A,NC_000002.12:74150850:T:G
Gene:: BOLA3-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.74150851T>A, NC_000002.12:g.74150851T>G, NC_000002.11:g.74377978T>A, NC_000002.11:g.74377978T>G, NG_031910.1:g.2062A>T, NG_031910.1:g.2062A>C, NR_045634.1:n.2652T>A, NR_045634.1:n.2652T>G, NR_045636.1:n.2526T>A, NR_045636.1:n.2526T>G

Select item 148785208810.

rs1487852088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74151734 (GRCh38)
2:74378861 (GRCh37)
Canonical SPDI:: NC_000002.12:74151733:G:A
Gene:: BOLA3-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.74151734G>A, NC_000002.11:g.74378861G>A, NG_031910.1:g.1179C>T, NR_045634.1:n.3535G>A, NR_045636.1:n.3409G>A

Select item 148741176911.

rs1487411769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74147855 (GRCh38)
2:74374982 (GRCh37)
Canonical SPDI:: NC_000002.12:74147854:G:A
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by cluster
HGVS:: NC_000002.12:g.74147855G>A, NC_000002.11:g.74374982G>A, NG_031910.1:g.5058C>T, NM_212552.3:c.20C>T, NM_212552.2:c.20C>T, NM_001035505.2:c.20C>T, NM_001035505.1:c.20C>T, NP_997717.2:p.Ala7Val, NP_001030582.1:p.Ala7Val

Select item 148727628012.

rs1487276280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:74147935 (GRCh38)
2:74375062 (GRCh37)
Canonical SPDI:: NC_000002.12:74147934:G:A,NC_000002.12:74147934:G:C
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.74147935G>A, NC_000002.12:g.74147935G>C, NC_000002.11:g.74375062G>A, NC_000002.11:g.74375062G>C, NG_031910.1:g.4978C>T, NG_031910.1:g.4978C>G

Select item 148704279413.

rs1487042794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74146444 (GRCh38)
2:74373571 (GRCh37)
Canonical SPDI:: NC_000002.12:74146443:T:A
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74146444T>A, NC_000002.11:g.74373571T>A, NG_031910.1:g.6469A>T

Select item 148671857214.

rs1486718572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74147536 (GRCh38)
2:74374663 (GRCh37)
Canonical SPDI:: NC_000002.12:74147535:C:T
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.74147536C>T, NC_000002.11:g.74374663C>T, NG_031910.1:g.5377G>A

Select item 148637943215.

rs1486379432 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCT>- [Show Flanks]
Chromosome:: 2:74150024 (GRCh38)
2:74377151 (GRCh37)
Canonical SPDI:: NC_000002.12:74150021:CTTTCT:CT
Gene:: BOLA3-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000184/3 (ALFA)
-=0.000035/1 (TOMMO)
-=0.00019/25 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000002.12:g.74150024_74150027del, NC_000002.11:g.74377151_74377154del, NG_031910.1:g.2888_2891del, NR_045634.1:n.1825_1828del, NR_045636.1:n.1699_1702del

Select item 148526333716.

rs1485263337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:74149871 (GRCh38)
2:74376998 (GRCh37)
Canonical SPDI:: NC_000002.12:74149870:C:A,NC_000002.12:74149870:C:G
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74149871C>A, NC_000002.12:g.74149871C>G, NC_000002.11:g.74376998C>A, NC_000002.11:g.74376998C>G, NG_031910.1:g.3042G>T, NG_031910.1:g.3042G>C, NR_045634.1:n.1672C>A, NR_045634.1:n.1672C>G, NR_045636.1:n.1546C>A, NR_045636.1:n.1546C>G

Select item 148407327117.

rs1484073271 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAGAC>- [Show Flanks]
Chromosome:: 2:74146605 (GRCh38)
2:74373732 (GRCh37)
Canonical SPDI:: NC_000002.12:74146601:GACTAGAC:GAC
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74146605_74146609del, NC_000002.11:g.74373732_74373736del, NG_031910.1:g.6307_6311del

Select item 148336729518.

rs1483367295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74146246 (GRCh38)
2:74373373 (GRCh37)
Canonical SPDI:: NC_000002.12:74146245:A:G
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000002.12:g.74146246A>G, NC_000002.11:g.74373373A>G, NG_031910.1:g.6667T>C

Select item 148319271819.

rs1483192718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:74146017 (GRCh38)
2:74373144 (GRCh37)
Canonical SPDI:: NC_000002.12:74146016:G:C,NC_000002.12:74146016:G:T
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74146017G>C, NC_000002.12:g.74146017G>T, NC_000002.11:g.74373144G>C, NC_000002.11:g.74373144G>T, NG_031910.1:g.6896C>G, NG_031910.1:g.6896C>A

Select item 148316228320.

rs1483162283 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:74147792 (GRCh38)
2:74374919 (GRCh37)
Canonical SPDI:: NC_000002.12:74147791:A:
Gene:: BOLA3 (Varview), BOLA3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74147792del, NC_000002.11:g.74374919del, NG_031910.1:g.5121del

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