SNP Links for Gene (Select 1506) - SNP

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Select item 14915384551.

rs1491538455 has merged into rs56130050 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:67933519 (GRCh38)
16:67967422 (GRCh37)
Canonical SPDI:: NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933508:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.67933519_67933533del, NC_000016.10:g.67933522_67933533del, NC_000016.10:g.67933523_67933533del, NC_000016.10:g.67933524_67933533del, NC_000016.10:g.67933525_67933533del, NC_000016.10:g.67933526_67933533del, NC_000016.10:g.67933527_67933533del, NC_000016.10:g.67933528_67933533del, NC_000016.10:g.67933529_67933533del, NC_000016.10:g.67933530_67933533del, NC_000016.10:g.67933531_67933533del, NC_000016.10:g.67933532_67933533del, NC_000016.10:g.67933533del, NC_000016.10:g.67933533dup, NC_000016.10:g.67933532_67933533dup, NC_000016.10:g.67933531_67933533dup, NC_000016.10:g.67933530_67933533dup, NC_000016.10:g.67933529_67933533dup, NC_000016.9:g.67967422_67967436del, NC_000016.9:g.67967425_67967436del, NC_000016.9:g.67967426_67967436del, NC_000016.9:g.67967427_67967436del, NC_000016.9:g.67967428_67967436del, NC_000016.9:g.67967429_67967436del, NC_000016.9:g.67967430_67967436del, NC_000016.9:g.67967431_67967436del, NC_000016.9:g.67967432_67967436del, NC_000016.9:g.67967433_67967436del, NC_000016.9:g.67967434_67967436del, NC_000016.9:g.67967435_67967436del, NC_000016.9:g.67967436del, NC_000016.9:g.67967436dup, NC_000016.9:g.67967435_67967436dup, NC_000016.9:g.67967434_67967436dup, NC_000016.9:g.67967433_67967436dup, NC_000016.9:g.67967432_67967436dup, NG_051639.1:g.3353_3367del, NG_051639.1:g.3356_3367del, NG_051639.1:g.3357_3367del, NG_051639.1:g.3358_3367del, NG_051639.1:g.3359_3367del, NG_051639.1:g.3360_3367del, NG_051639.1:g.3361_3367del, NG_051639.1:g.3362_3367del, NG_051639.1:g.3363_3367del, NG_051639.1:g.3364_3367del, NG_051639.1:g.3365_3367del, NG_051639.1:g.3366_3367del, NG_051639.1:g.3367del, NG_051639.1:g.3367dup, NG_051639.1:g.3366_3367dup, NG_051639.1:g.3365_3367dup, NG_051639.1:g.3364_3367dup, NG_051639.1:g.3363_3367dup

Select item 14914364382.

rs1491436438 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:67933508 (GRCh38)
16:67967411 (GRCh37)
Canonical SPDI:: NC_000016.10:67933507:CA:
Gene:: CTRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.67933508_67933509del, NC_000016.9:g.67967411_67967412del, NG_051639.1:g.3367_3368del

Select item 14910591883.

rs1491059188 has merged into rs58592397 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:67933398 (GRCh38)
16:67967301 (GRCh37)
Canonical SPDI:: NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67933387:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.04049/202 (1000Genomes)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000016.10:g.67933398_67933407del, NC_000016.10:g.67933401_67933407del, NC_000016.10:g.67933402_67933407del, NC_000016.10:g.67933403_67933407del, NC_000016.10:g.67933404_67933407del, NC_000016.10:g.67933405_67933407del, NC_000016.10:g.67933406_67933407del, NC_000016.10:g.67933407del, NC_000016.10:g.67933407dup, NC_000016.10:g.67933406_67933407dup, NC_000016.10:g.67933405_67933407dup, NC_000016.10:g.67933404_67933407dup, NC_000016.10:g.67933403_67933407dup, NC_000016.9:g.67967301_67967310del, NC_000016.9:g.67967304_67967310del, NC_000016.9:g.67967305_67967310del, NC_000016.9:g.67967306_67967310del, NC_000016.9:g.67967307_67967310del, NC_000016.9:g.67967308_67967310del, NC_000016.9:g.67967309_67967310del, NC_000016.9:g.67967310del, NC_000016.9:g.67967310dup, NC_000016.9:g.67967309_67967310dup, NC_000016.9:g.67967308_67967310dup, NC_000016.9:g.67967307_67967310dup, NC_000016.9:g.67967306_67967310dup, NG_051639.1:g.3479_3488del, NG_051639.1:g.3482_3488del, NG_051639.1:g.3483_3488del, NG_051639.1:g.3484_3488del, NG_051639.1:g.3485_3488del, NG_051639.1:g.3486_3488del, NG_051639.1:g.3487_3488del, NG_051639.1:g.3488del, NG_051639.1:g.3488dup, NG_051639.1:g.3487_3488dup, NG_051639.1:g.3486_3488dup, NG_051639.1:g.3485_3488dup, NG_051639.1:g.3484_3488dup

Select item 14903430744.

rs1490343074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67933823 (GRCh38)
16:67967726 (GRCh37)
Canonical SPDI:: NC_000016.10:67933822:C:T
Gene:: CTRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.67933823C>T, NC_000016.9:g.67967726C>T, NG_051639.1:g.3053G>A

Select item 14890383915.

rs1489038391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67933632 (GRCh38)
16:67967535 (GRCh37)
Canonical SPDI:: NC_000016.10:67933631:A:G
Gene:: CTRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67933632A>G, NC_000016.9:g.67967535A>G, NG_051639.1:g.3244T>C

Select item 14881682686.

rs1488168268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67932031 (GRCh38)
16:67965934 (GRCh37)
Canonical SPDI:: NC_000016.10:67932030:C:G
Gene:: CTRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67932031C>G, NC_000016.9:g.67965934C>G, NG_051639.1:g.4845G>C

Select item 14881215797.

rs1488121579 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 16:67931027 (GRCh38)
16:67964930 (GRCh37)
Canonical SPDI:: NC_000016.10:67931026:GGGGG:GGGG,NC_000016.10:67931026:GGGGG:GGGGGG
Gene:: CTRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.67931031del, NC_000016.10:g.67931031dup, NC_000016.9:g.67964934del, NC_000016.9:g.67964934dup, NG_051639.1:g.5849del, NG_051639.1:g.5849dup

Select item 14878194318.

rs1487819431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67931818 (GRCh38)
16:67965721 (GRCh37)
Canonical SPDI:: NC_000016.10:67931817:A:G
Gene:: CTRL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67931818A>G, NC_000016.9:g.67965721A>G, NG_051639.1:g.5058T>C, NM_001907.3:c.35T>C, NM_001907.2:c.35T>C, NP_001898.1:p.Leu12Pro

Select item 14874017579.

rs1487401757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67930998 (GRCh38)
16:67964901 (GRCh37)
Canonical SPDI:: NC_000016.10:67930997:T:C
Gene:: CTRL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67930998T>C, NC_000016.9:g.67964901T>C, NG_051639.1:g.5878A>G, NM_001907.3:c.158A>G, NM_001907.2:c.158A>G, NP_001898.1:p.Asp53Gly

Select item 148678002310.

rs1486780023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:67930484 (GRCh38)
16:67964387 (GRCh37)
Canonical SPDI:: NC_000016.10:67930483:G:T
Gene:: CTRL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67930484G>T, NC_000016.9:g.67964387G>T, NG_051639.1:g.6392C>A, NM_001907.3:c.423C>A, NM_001907.2:c.423C>A, NP_001898.1:p.Cys141Ter

Select item 148508880911.

rs1485088809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67933782 (GRCh38)
16:67967685 (GRCh37)
Canonical SPDI:: NC_000016.10:67933781:A:G
Gene:: CTRL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67933782A>G, NC_000016.9:g.67967685A>G, NG_051639.1:g.3094T>C

Select item 148496872012.

rs1484968720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:67933206 (GRCh38)
16:67967109 (GRCh37)
Canonical SPDI:: NC_000016.10:67933205:G:A,NC_000016.10:67933205:G:C
Gene:: CTRL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.67933206G>A, NC_000016.10:g.67933206G>C, NC_000016.9:g.67967109G>A, NC_000016.9:g.67967109G>C, NG_051639.1:g.3670C>T, NG_051639.1:g.3670C>G

Select item 148361816513.

rs1483618165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67930543 (GRCh38)
16:67964446 (GRCh37)
Canonical SPDI:: NC_000016.10:67930542:C:T
Gene:: CTRL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.67930543C>T, NC_000016.9:g.67964446C>T, NG_051639.1:g.6333G>A, NM_001907.3:c.364G>A, NM_001907.2:c.364G>A, NP_001898.1:p.Val122Met

Select item 148351729914.

rs1483517299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67929700 (GRCh38)
16:67963603 (GRCh37)
Canonical SPDI:: NC_000016.10:67929699:A:T
Gene:: CTRL (Varview), PSKH1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67929700A>T, NC_000016.9:g.67963603A>T, NG_051639.1:g.7176T>A, NM_001907.3:c.*234T>A, NM_001907.2:c.*234T>A

Select item 148302185215.

rs1483021852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:67932346 (GRCh38)
16:67966249 (GRCh37)
Canonical SPDI:: NC_000016.10:67932345:G:C
Gene:: CTRL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000016.10:g.67932346G>C, NC_000016.9:g.67966249G>C, NG_051639.1:g.4530C>G

Select item 148250414616.

rs1482504146 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:67932260 (GRCh38)
16:67966164 (GRCh37)
Canonical SPDI:: NC_000016.10:67932260:AA:AAA
Gene:: CTRL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67932262dup, NC_000016.9:g.67966165dup, NG_051639.1:g.4615dup

Select item 148225891217.

rs1482258912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:67929725 (GRCh38)
16:67963628 (GRCh37)
Canonical SPDI:: NC_000016.10:67929724:G:A,NC_000016.10:67929724:G:T
Gene:: CTRL (Varview), PSKH1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.67929725G>A, NC_000016.10:g.67929725G>T, NC_000016.9:g.67963628G>A, NC_000016.9:g.67963628G>T, NG_051639.1:g.7151C>T, NG_051639.1:g.7151C>A, NM_001907.3:c.*209C>T, NM_001907.3:c.*209C>A, NM_001907.2:c.*209C>T, NM_001907.2:c.*209C>A

Select item 148198976118.

rs1481989761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67930914 (GRCh38)
16:67964817 (GRCh37)
Canonical SPDI:: NC_000016.10:67930913:A:G
Gene:: CTRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67930914A>G, NC_000016.9:g.67964817A>G, NG_051639.1:g.5962T>C

Select item 148113238819.

rs1481132388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67931343 (GRCh38)
16:67965246 (GRCh37)
Canonical SPDI:: NC_000016.10:67931342:A:G
Gene:: CTRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.67931343A>G, NC_000016.9:g.67965246A>G, NG_051639.1:g.5533T>C

Select item 147967489320.

rs1479674893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:67932931 (GRCh38)
16:67966834 (GRCh37)
Canonical SPDI:: NC_000016.10:67932930:C:A,NC_000016.10:67932930:C:G
Gene:: CTRL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.67932931C>A, NC_000016.10:g.67932931C>G, NC_000016.9:g.67966834C>A, NC_000016.9:g.67966834C>G, NG_051639.1:g.3945G>T, NG_051639.1:g.3945G>C

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