SNP Links for Gene (Select 10917) - SNP

Links from Gene

Items: 1 to 20 of 3907

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Select item 14913713301.

rs1491371330 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 5:181002367 (GRCh38)
5:180429367 (GRCh37)
Canonical SPDI:: NC_000005.10:181002366:CG:
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00062/4 (1000Genomes)
-=0.00182/55 (GnomAD)
HGVS:: NC_000005.10:g.181002367_181002368del, NC_000005.9:g.180429367_180429368del

Select item 14912960482.

rs1491296048 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:181002367 (GRCh38)
5:180429368 (GRCh37)
Canonical SPDI:: NC_000005.10:181002367:GTGTGTGTGT:GTGTGTGTGTGT
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
GT=0.00116/30 (GnomAD)
HGVS:: NC_000005.10:g.181002368GT[6], NC_000005.9:g.180429368GT[6]

Select item 14910188403.

rs1491018840 has merged into rs70973970 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:180988325 (GRCh38)
5:180415325 (GRCh37)
Canonical SPDI:: NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:180988312:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BTNL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.180988325_180988339del, NC_000005.10:g.180988326_180988339del, NC_000005.10:g.180988327_180988339del, NC_000005.10:g.180988328_180988339del, NC_000005.10:g.180988329_180988339del, NC_000005.10:g.180988330_180988339del, NC_000005.10:g.180988331_180988339del, NC_000005.10:g.180988332_180988339del, NC_000005.10:g.180988333_180988339del, NC_000005.10:g.180988334_180988339del, NC_000005.10:g.180988335_180988339del, NC_000005.10:g.180988336_180988339del, NC_000005.10:g.180988337_180988339del, NC_000005.10:g.180988338_180988339del, NC_000005.10:g.180988339del, NC_000005.10:g.180988339dup, NC_000005.10:g.180988338_180988339dup, NC_000005.10:g.180988337_180988339dup, NC_000005.10:g.180988336_180988339dup, NC_000005.10:g.180988335_180988339dup, NC_000005.10:g.180988334_180988339dup, NC_000005.10:g.180988332_180988339dup, NC_000005.9:g.180415325_180415339del, NC_000005.9:g.180415326_180415339del, NC_000005.9:g.180415327_180415339del, NC_000005.9:g.180415328_180415339del, NC_000005.9:g.180415329_180415339del, NC_000005.9:g.180415330_180415339del, NC_000005.9:g.180415331_180415339del, NC_000005.9:g.180415332_180415339del, NC_000005.9:g.180415333_180415339del, NC_000005.9:g.180415334_180415339del, NC_000005.9:g.180415335_180415339del, NC_000005.9:g.180415336_180415339del, NC_000005.9:g.180415337_180415339del, NC_000005.9:g.180415338_180415339del, NC_000005.9:g.180415339del, NC_000005.9:g.180415339dup, NC_000005.9:g.180415338_180415339dup, NC_000005.9:g.180415337_180415339dup, NC_000005.9:g.180415336_180415339dup, NC_000005.9:g.180415335_180415339dup, NC_000005.9:g.180415334_180415339dup, NC_000005.9:g.180415332_180415339dup

Select item 14908357164.

rs1490835716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181002936 (GRCh38)
5:180429936 (GRCh37)
Canonical SPDI:: NC_000005.10:181002935:C:T
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.181002936C>T, NC_000005.9:g.180429936C>T

Select item 14908305705.

rs1490830570 has merged into rs111642156 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAAACAAAACAAAACAAA>-,ACAAA,ACAAAACAAA,ACAAAACAAAACAAA,ACAAAACAAAACAAAACAAAACAAA [Show Flanks]
Chromosome:: 5:181001856 (GRCh38)
5:180428856 (GRCh37)
Canonical SPDI:: NC_000005.10:181001844:AACAAAACAAAACAAAACAAAACAAAACAAA:AACAAAACAAA,NC_000005.10:181001844:AACAAAACAAAACAAAACAAAACAAAACAAA:AACAAAACAAAACAAA,NC_000005.10:181001844:AACAAAACAAAACAAAACAAAACAAAACAAA:AACAAAACAAAACAAAACAAA,NC_000005.10:181001844:AACAAAACAAAACAAAACAAAACAAAACAAA:AACAAAACAAAACAAAACAAAACAAA,NC_000005.10:181001844:AACAAAACAAAACAAAACAAAACAAAACAAA:AACAAAACAAAACAAAACAAAACAAAACAAAACAAA
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACAAAACAAAACAAA=0./0 (ALFA)
AACAA=0.3756/1881 (1000Genomes)
AACAA=0.5/17 (GENOME_DK)
HGVS:: NC_000005.10:g.181001846ACAAA[2], NC_000005.10:g.181001846ACAAA[3], NC_000005.10:g.181001846ACAAA[4], NC_000005.10:g.181001846ACAAA[5], NC_000005.10:g.181001846ACAAA[7], NC_000005.9:g.180428846ACAAA[2], NC_000005.9:g.180428846ACAAA[3], NC_000005.9:g.180428846ACAAA[4], NC_000005.9:g.180428846ACAAA[5], NC_000005.9:g.180428846ACAAA[7]

Select item 14907497746.

rs1490749774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:181005565 (GRCh38)
5:180432565 (GRCh37)
Canonical SPDI:: NC_000005.10:181005564:G:A
Gene:: BTNL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181005565G>A, NC_000005.9:g.180432565G>A, NM_197975.3:c.1094G>A, NM_197975.2:c.1094G>A, NM_006707.2:c.992G>A, NP_932079.1:p.Gly365Glu

Select item 14907181317.

rs1490718131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181002541 (GRCh38)
5:180429541 (GRCh37)
Canonical SPDI:: NC_000005.10:181002540:A:G
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.181002541A>G, NC_000005.9:g.180429541A>G

Select item 14906715868.

rs1490671586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:181001505 (GRCh38)
5:180428505 (GRCh37)
Canonical SPDI:: NC_000005.10:181001504:G:A
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000017/2 (GnomAD)
HGVS:: NC_000005.10:g.181001505G>A, NC_000005.9:g.180428505G>A

Select item 14906554309.

rs1490655430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181003760 (GRCh38)
5:180430760 (GRCh37)
Canonical SPDI:: NC_000005.10:181003759:C:T
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.181003760C>T, NC_000005.9:g.180430760C>T

Select item 149064504010.

rs1490645040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:181000589 (GRCh38)
5:180427589 (GRCh37)
Canonical SPDI:: NC_000005.10:181000588:G:A
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.181000589G>A, NC_000005.9:g.180427589G>A

Select item 149042533311.

rs1490425333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:180992617 (GRCh38)
5:180419617 (GRCh37)
Canonical SPDI:: NC_000005.10:180992616:A:T
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.180992617A>T, NC_000005.9:g.180419617A>T

Select item 149036892712.

rs1490368927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180991230 (GRCh38)
5:180418230 (GRCh37)
Canonical SPDI:: NC_000005.10:180991229:T:C
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.180991230T>C, NC_000005.9:g.180418230T>C

Select item 149031202013.

rs1490312020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:180990716 (GRCh38)
5:180417716 (GRCh37)
Canonical SPDI:: NC_000005.10:180990715:T:A
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.180990716T>A, NC_000005.9:g.180417716T>A

Select item 148983901114.

rs1489839011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181004523 (GRCh38)
5:180431523 (GRCh37)
Canonical SPDI:: NC_000005.10:181004522:C:T
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.181004523C>T, NC_000005.9:g.180431523C>T

Select item 148982699815.

rs1489826998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:181000077 (GRCh38)
5:180427077 (GRCh37)
Canonical SPDI:: NC_000005.10:181000076:G:A
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.181000077G>A, NC_000005.9:g.180427077G>A

Select item 148977135816.

rs1489771358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:181006356 (GRCh38)
5:180433356 (GRCh37)
Canonical SPDI:: NC_000005.10:181006355:C:T
Gene:: BTNL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.181006356C>T, NC_000005.9:g.180433356C>T, NM_197975.3:c.*484C>T, NM_197975.2:c.*484C>T, NM_006707.2:c.*484C>T

Select item 148963281117.

rs1489632811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180995473 (GRCh38)
5:180422473 (GRCh37)
Canonical SPDI:: NC_000005.10:180995472:T:C
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.180995473T>C, NC_000005.9:g.180422473T>C

Select item 148939492518.

rs1489394925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:181000904 (GRCh38)
5:180427904 (GRCh37)
Canonical SPDI:: NC_000005.10:181000903:T:C
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.181000904T>C, NC_000005.9:g.180427904T>C

Select item 148935725219.

rs1489357252 has merged into rs1355271406 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTTT>-,GTTTTTGTTTTT [Show Flanks]
Chromosome:: 5:181004408 (GRCh38)
5:180431408 (GRCh37)
Canonical SPDI:: NC_000005.10:181004390:TTTTTGTTTTTGTTTTTGTTTTT:TTTTTGTTTTTGTTTTT,NC_000005.10:181004390:TTTTTGTTTTTGTTTTTGTTTTT:TTTTTGTTTTTGTTTTTGTTTTTGTTTTT
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTGTTTTTGTTTTTGTTTTTGTTTTT=0./0 (ALFA)
-=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.181004396GTTTTT[2], NC_000005.10:g.181004396GTTTTT[4], NC_000005.9:g.180431396GTTTTT[2], NC_000005.9:g.180431396GTTTTT[4]

Select item 148927859920.

rs1489278599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:181003729 (GRCh38)
5:180430729 (GRCh37)
Canonical SPDI:: NC_000005.10:181003728:A:G
Gene:: BTNL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.181003729A>G, NC_000005.9:g.180430729A>G

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