SNP Links for Gene (Select 285819) - SNP

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Select item 14915089341.

rs1491508934 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:26474777 (GRCh38)
6:26475005 (GRCh37)
Canonical SPDI:: NC_000006.12:26474774:AGAG:AG
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
HGVS:: NC_000006.12:g.26474775AG[1], NC_000006.11:g.26475003AG[1], NW_025791780.1:g.20955AG[1]

Select item 14914088192.

rs1491408819 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:26475935 (GRCh38)
6:26476163 (GRCh37)
Canonical SPDI:: NC_000006.12:26475934:AG:
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26475935_26475936del, NC_000006.11:g.26476163_26476164del, NW_025791780.1:g.22115_22116del

Select item 14911520573.

rs1491152057 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT [Show Flanks]
Chromosome:: 6:26474775 (GRCh38)
6:26475004 (GRCh37)
Canonical SPDI:: NC_000006.12:26474775::TTT
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TTT=0.0005/2 (Estonian)
HGVS:: NC_000006.12:g.26474775_26474776insTTT, NC_000006.11:g.26475003_26475004insTTT, NW_025791780.1:g.20955_20956insTTT

Select item 14911096274.

rs1491109627 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:26475935 (GRCh38)
6:26476164 (GRCh37)
Canonical SPDI:: NC_000006.12:26475935:GGGG:GGGGG
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26475939dup, NC_000006.11:g.26476167dup, NW_025791780.1:g.22119dup

Select item 14910797595.

rs1491079759 [Homo sapiens]

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

Select item 14909950096.

rs1490995009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:26482155 (GRCh38)
6:26482383 (GRCh37)
Canonical SPDI:: NC_000006.12:26482154:G:T
Gene:: LOC285819 (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_000006.12:g.26482155G>T, NC_000006.11:g.26482383G>T, NW_025791780.1:g.28335G>T

Select item 14909217707.

rs1490921770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:26474260 (GRCh38)
6:26474488 (GRCh37)
Canonical SPDI:: NC_000006.12:26474259:C:A
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26474260C>A, NC_000006.11:g.26474488C>A, NW_025791780.1:g.20440C>A

Select item 14908614168.

rs1490861416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:26484167 (GRCh38)
6:26484395 (GRCh37)
Canonical SPDI:: NC_000006.12:26484166:G:T
Gene:: LOC285819 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26484167G>T, NC_000006.11:g.26484395G>T, NW_025791780.1:g.30347G>T

Select item 14906311349.

rs1490631134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26483760 (GRCh38)
6:26483988 (GRCh37)
Canonical SPDI:: NC_000006.12:26483759:C:T
Gene:: LOC285819 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26483760C>T, NC_000006.11:g.26483988C>T, NW_025791780.1:g.29940C>T

Select item 149042290410.

rs1490422904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26474851 (GRCh38)
6:26475079 (GRCh37)
Canonical SPDI:: NC_000006.12:26474850:C:T
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.26474851C>T, NC_000006.11:g.26475079C>T, NW_025791780.1:g.21031C>T

Select item 149015548111.

rs1490155481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:26483087 (GRCh38)
6:26483315 (GRCh37)
Canonical SPDI:: NC_000006.12:26483086:A:G,NC_000006.12:26483086:A:T
Gene:: LOC285819 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26483087A>G, NC_000006.12:g.26483087A>T, NC_000006.11:g.26483315A>G, NC_000006.11:g.26483315A>T, NW_025791780.1:g.29267A>G, NW_025791780.1:g.29267A>T

Select item 149014187412.

rs1490141874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26484360 (GRCh38)
6:26484588 (GRCh37)
Canonical SPDI:: NC_000006.12:26484359:A:C
Gene:: LOC285819 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26484360A>C, NC_000006.11:g.26484588A>C, NW_025791780.1:g.30540A>C

Select item 148968347813.

rs1489683478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26479097 (GRCh38)
6:26479325 (GRCh37)
Canonical SPDI:: NC_000006.12:26479096:C:T
Gene:: LOC285819 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.26479097C>T, NC_000006.11:g.26479325C>T, NW_025791780.1:g.25277C>T, NR_038992.1:n.62G>A

Select item 148967062714.

rs1489670627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:26475910 (GRCh38)
6:26476138 (GRCh37)
Canonical SPDI:: NC_000006.12:26475909:A:T
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26475910A>T, NC_000006.11:g.26476138A>T, NW_025791780.1:g.22090A>T

Select item 148945209115.

rs1489452091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26476723 (GRCh38)
6:26476951 (GRCh37)
Canonical SPDI:: NC_000006.12:26476722:C:T
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26476723C>T, NC_000006.11:g.26476951C>T, NW_025791780.1:g.22903C>T, NR_038992.1:n.2083G>A

Select item 148880120116.

rs1488801201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26472515 (GRCh38)
6:26472743 (GRCh37)
Canonical SPDI:: NC_000006.12:26472514:T:C
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000006.12:g.26472515T>C, NC_000006.11:g.26472743T>C, NW_025791780.1:g.18695T>C

Select item 148879980817.

rs1488799808 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTTTCTTCTGTCTT>-,TATTTTCTTCTGTCTTTATTTTCTTCTGTCTT [Show Flanks]
Chromosome:: 6:26472108 (GRCh38)
6:26472336 (GRCh37)
Canonical SPDI:: NC_000006.12:26472098:TTCTGTCTTTATTTTCTTCTGTCTT:TTCTGTCTT,NC_000006.12:26472098:TTCTGTCTTTATTTTCTTCTGTCTT:TTCTGTCTTTATTTTCTTCTGTCTTTATTTTCTTCTGTCTT
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTGTCTTTATTTTCTTCTGTCTTTATTTTCTTCTGTCTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26472108_26472123del, NC_000006.12:g.26472108_26472123dup, NC_000006.11:g.26472336_26472351del, NC_000006.11:g.26472336_26472351dup, NW_025791780.1:g.18288_18303del, NW_025791780.1:g.18288_18303dup, NR_038992.1:n.2734_2749del, NR_038992.1:n.2734_2749dup

Select item 148875117518.

rs1488751175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:26471455 (GRCh38)
6:26471683 (GRCh37)
Canonical SPDI:: NC_000006.12:26471454:C:A,NC_000006.12:26471454:C:T
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.26471455C>A, NC_000006.12:g.26471455C>T, NC_000006.11:g.26471683C>A, NC_000006.11:g.26471683C>T, NW_025791780.1:g.17635C>A, NW_025791780.1:g.17635C>T

Select item 148851201819.

rs1488512018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26476127 (GRCh38)
6:26476355 (GRCh37)
Canonical SPDI:: NC_000006.12:26476126:G:A
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_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)
HGVS:: NC_000006.12:g.26476127G>A, NC_000006.11:g.26476355G>A, NW_025791780.1:g.22307G>A, NM_001197234.3:c.988G>A, NM_001197234.2:c.988G>A, NP_001184163.1:p.Val330Ile

Select item 148812920120.

rs1488129201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26476190 (GRCh38)
6:26476418 (GRCh37)
Canonical SPDI:: NC_000006.12:26476189:G:A
Gene:: BTN2A1 (Varview), LOC285819 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26476190G>A, NC_000006.11:g.26476418G>A, NW_025791780.1:g.22370G>A, NM_001197234.3:c.*58G>A, NM_001197234.2:c.*58G>A, NR_038992.1:n.2616C>T

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