SNP Links for Gene (Select 5947) - SNP

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Select item 14913968521.

rs1491396852 has merged into rs149693347 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATAAATAGATATATATATATAAAATATATATATATATATA,TATATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 3:139527904 (GRCh38)
3:139246746 (GRCh37)
Canonical SPDI:: NC_000003.12:139527890:ATATATATATATATA:ATATATATATATA,NC_000003.12:139527890:ATATATATATATATA:ATATATATATATATATA,NC_000003.12:139527890:ATATATATATATATA:ATATATATATATATATAAATAGATATATATATATAAAATATATATATATATATA,NC_000003.12:139527890:ATATATATATATATA:ATATATATATATATATATA,NC_000003.12:139527890:ATATATATATATATA:ATATATATATATATATATATA,NC_000003.12:139527890:ATATATATATATATA:ATATATATATATATATATATATA
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATA=0./0 (ALFA)
AT=0.15/6 (GENOME_DK)
AT=0.20333/122 (NorthernSweden)
HGVS:: NC_000003.12:g.139527892TA[6], NC_000003.12:g.139527892TA[8], NC_000003.12:g.139527891_139527905AT[8]AAATAGATATATATATATAAAATATATATATATATATA[1], NC_000003.12:g.139527892TA[9], NC_000003.12:g.139527892TA[10], NC_000003.12:g.139527892TA[11], NC_000003.11:g.139246734TA[6], NC_000003.11:g.139246734TA[8], NC_000003.11:g.139246733_139246747AT[8]AAATAGATATATATATATAAAATATATATATATATATA[1], NC_000003.11:g.139246734TA[9], NC_000003.11:g.139246734TA[10], NC_000003.11:g.139246734TA[11], NG_047073.1:g.16926AT[6], NG_047073.1:g.16926AT[8], NG_047073.1:g.16925_16939TA[8]T[4]AT[6]CTATTTATATATATATATATAT[1], NG_047073.1:g.16926AT[9], NG_047073.1:g.16926AT[10], NG_047073.1:g.16926AT[11]

Select item 14912922602.

rs1491292260 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:139533280 (GRCh38)
3:139252123 (GRCh37)
Canonical SPDI:: NC_000003.12:139533280::G
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.139533280_139533281insG, NC_000003.11:g.139252122_139252123insG, NG_047073.1:g.11549_11550insC

Select item 14911673483.

rs1491167348 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:139521210 (GRCh38)
3:139240053 (GRCh37)
Canonical SPDI:: NC_000003.12:139521210::G
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.139521210_139521211insG, NC_000003.11:g.139240052_139240053insG, NG_047073.1:g.23619_23620insC

Select item 14907075334.

rs1490707533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:139536766 (GRCh38)
3:139255608 (GRCh37)
Canonical SPDI:: NC_000003.12:139536765:T:C
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.139536766T>C, NC_000003.11:g.139255608T>C, NG_047073.1:g.8064A>G

Select item 14906105045.

rs1490610504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:139518171 (GRCh38)
3:139237013 (GRCh37)
Canonical SPDI:: NC_000003.12:139518170:G:A,NC_000003.12:139518170:G:T
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.139518171G>A, NC_000003.12:g.139518171G>T, NC_000003.11:g.139237013G>A, NC_000003.11:g.139237013G>T, NG_047073.1:g.26659C>T, NG_047073.1:g.26659C>A

Select item 14905874366.

rs1490587436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:139536508 (GRCh38)
3:139255350 (GRCh37)
Canonical SPDI:: NC_000003.12:139536507:A:T
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.139536508A>T, NC_000003.11:g.139255350A>T, NG_047073.1:g.8322T>A

Select item 14905398087.

rs1490539808 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTC>- [Show Flanks]
Chromosome:: 3:139535703 (GRCh38)
3:139254545 (GRCh37)
Canonical SPDI:: NC_000003.12:139535697:CTTTCTTTC:CTTTC
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTC=0.000214/3 (ALFA)
-=0.000057/8 (GnomAD)
-=0.000087/23 (TOPMED)
HGVS:: NC_000003.12:g.139535699TTTC[1], NC_000003.11:g.139254541TTTC[1], NG_047073.1:g.9125AAAG[1]

Select item 14902669418.

rs1490266941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:139535498 (GRCh38)
3:139254340 (GRCh37)
Canonical SPDI:: NC_000003.12:139535497:C:T
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.139535498C>T, NC_000003.11:g.139254340C>T, NG_047073.1:g.9332G>A

Select item 14898063679.

rs1489806367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:139518829 (GRCh38)
3:139237671 (GRCh37)
Canonical SPDI:: NC_000003.12:139518828:G:T
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139518829G>T, NC_000003.11:g.139237671G>T, NG_047073.1:g.26001C>A

Select item 148976957310.

rs1489769573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:139520332 (GRCh38)
3:139239174 (GRCh37)
Canonical SPDI:: NC_000003.12:139520331:G:C
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000003.12:g.139520332G>C, NC_000003.11:g.139239174G>C, NG_047073.1:g.24498C>G

Select item 148959916111.

rs1489599161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:139537014 (GRCh38)
3:139255856 (GRCh37)
Canonical SPDI:: NC_000003.12:139537013:T:A
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000003.12:g.139537014T>A, NC_000003.11:g.139255856T>A, NG_047073.1:g.7816A>T

Select item 148923012012.

rs1489230120 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:139521194 (GRCh38)
3:139240037 (GRCh37)
Canonical SPDI:: NC_000003.12:139521194::A
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.139521194_139521195insA, NC_000003.11:g.139240036_139240037insA, NG_047073.1:g.23635_23636insT

Select item 148913397313.

rs1489133973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:139530034 (GRCh38)
3:139248876 (GRCh37)
Canonical SPDI:: NC_000003.12:139530033:T:C
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000003.12:g.139530034T>C, NC_000003.11:g.139248876T>C, NG_047073.1:g.14796A>G

Select item 148910404214.

rs1489104042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:139534914 (GRCh38)
3:139253756 (GRCh37)
Canonical SPDI:: NC_000003.12:139534913:C:T
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000071/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.139534914C>T, NC_000003.11:g.139253756C>T, NG_047073.1:g.9916G>A

Select item 148896424415.

rs1488964244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:139536036 (GRCh38)
3:139254878 (GRCh37)
Canonical SPDI:: NC_000003.12:139536035:T:C
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139536036T>C, NC_000003.11:g.139254878T>C, NG_047073.1:g.8794A>G

Select item 148896028716.

rs1488960287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:139524080 (GRCh38)
3:139242922 (GRCh37)
Canonical SPDI:: NC_000003.12:139524079:T:G
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.139524080T>G, NC_000003.11:g.139242922T>G, NG_047073.1:g.20750A>C

Select item 148889972917.

rs1488899729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:139520000 (GRCh38)
3:139238842 (GRCh37)
Canonical SPDI:: NC_000003.12:139519999:C:T
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.139520000C>T, NC_000003.11:g.139238842C>T, NG_047073.1:g.24830G>A

Select item 148884523718.

rs1488845237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:139520390 (GRCh38)
3:139239232 (GRCh37)
Canonical SPDI:: NC_000003.12:139520389:T:C
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.139520390T>C, NC_000003.11:g.139239232T>C, NG_047073.1:g.24440A>G

Select item 148858688919.

rs1488586889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:139526506 (GRCh38)
3:139245348 (GRCh37)
Canonical SPDI:: NC_000003.12:139526505:A:G
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.139526506A>G, NC_000003.11:g.139245348A>G, NG_047073.1:g.18324T>C, NM_001130992.3:c.*801T>C, NM_001130992.2:c.*801T>C, NM_001130992.1:c.*801T>C

Select item 148840922220.

rs1488409222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:139518530 (GRCh38)
3:139237372 (GRCh37)
Canonical SPDI:: NC_000003.12:139518529:G:T
Gene:: RBP1 (Varview), COPB2-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.139518530G>T, NC_000003.11:g.139237372G>T, NG_047073.1:g.26300C>A

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