SNP Links for Gene (Select 84699) - SNP

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Select item 14915730411.

rs1491573041 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:4152561 (GRCh38)
19:4152559 (GRCh37)
Canonical SPDI:: NC_000019.10:4152561::C
Gene:: CREB3L3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4152561_4152562insC, NC_000019.9:g.4152558_4152559insC

Select item 14915360812.

rs1491536081 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:4166421 (GRCh38)
19:4166418 (GRCh37)
Canonical SPDI:: NC_000019.10:4166420:AT:
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.4166421_4166422del, NC_000019.9:g.4166418_4166419del

Select item 14914292703.

rs1491429270 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:4167995 (GRCh38)
19:4167992 (GRCh37)
Canonical SPDI:: NC_000019.10:4167993:TTT:T
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.4167995_4167996del, NC_000019.9:g.4167992_4167993del

Select item 14914036974.

rs1491403697 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:4158799 (GRCh38)
19:4158796 (GRCh37)
Canonical SPDI:: NC_000019.10:4158798:CA:
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000019.10:g.4158799_4158800del, NC_000019.9:g.4158796_4158797del

Select item 14913545005.

rs1491354500 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:4155752 (GRCh38)
19:4155750 (GRCh37)
Canonical SPDI:: NC_000019.10:4155752::C
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00004/0 (TOMMO)
C=0.00031/2 (1000Genomes)
C=0.00091/6 (GnomAD)
HGVS:: NC_000019.10:g.4155752_4155753insC, NC_000019.9:g.4155749_4155750insC

Select item 14913493476.

rs1491349347 has merged into rs35783380 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4166434 (GRCh38)
19:4166431 (GRCh37)
Canonical SPDI:: NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4166421:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.4166434_4166444del, NC_000019.10:g.4166435_4166444del, NC_000019.10:g.4166436_4166444del, NC_000019.10:g.4166437_4166444del, NC_000019.10:g.4166438_4166444del, NC_000019.10:g.4166439_4166444del, NC_000019.10:g.4166440_4166444del, NC_000019.10:g.4166441_4166444del, NC_000019.10:g.4166442_4166444del, NC_000019.10:g.4166443_4166444del, NC_000019.10:g.4166444del, NC_000019.10:g.4166444dup, NC_000019.10:g.4166443_4166444dup, NC_000019.10:g.4166442_4166444dup, NC_000019.10:g.4166441_4166444dup, NC_000019.10:g.4166439_4166444dup, NC_000019.9:g.4166431_4166441del, NC_000019.9:g.4166432_4166441del, NC_000019.9:g.4166433_4166441del, NC_000019.9:g.4166434_4166441del, NC_000019.9:g.4166435_4166441del, NC_000019.9:g.4166436_4166441del, NC_000019.9:g.4166437_4166441del, NC_000019.9:g.4166438_4166441del, NC_000019.9:g.4166439_4166441del, NC_000019.9:g.4166440_4166441del, NC_000019.9:g.4166441del, NC_000019.9:g.4166441dup, NC_000019.9:g.4166440_4166441dup, NC_000019.9:g.4166439_4166441dup, NC_000019.9:g.4166438_4166441dup, NC_000019.9:g.4166436_4166441dup

Select item 14913210497.

rs1491321049 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAAGGA [Show Flanks]
Chromosome:: 19:4167353 (GRCh38)
19:4167351 (GRCh37)
Canonical SPDI:: NC_000019.10:4167353:GA:GAAAGAAGGA
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAAAGAAGGA=0./0 (ALFA)
GAAAGAAG=0.00002/2 (GnomAD)
HGVS:: NC_000019.10:g.4167355_4167356insAAGAAGGA, NC_000019.9:g.4167352_4167353insAAGAAGGA

Select item 14912798218.

rs1491279821 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:4163352 (GRCh38)
19:4163349 (GRCh37)
Canonical SPDI:: NC_000019.10:4163350:AGA:A
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4163352_4163353del, NC_000019.9:g.4163349_4163350del

Select item 14911712989.

rs1491171298 has merged into rs1555703934 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 19:4167370 (GRCh38)
19:4167367 (GRCh37)
Canonical SPDI:: NC_000019.10:4167352:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000019.10:4167352:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000019.10:4167352:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000019.10:4167352:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:4167352:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:4167352:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000019.10:4167352:AGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000019.10:g.4167354GA[8], NC_000019.10:g.4167354GA[9], NC_000019.10:g.4167354GA[10], NC_000019.10:g.4167354GA[12], NC_000019.10:g.4167354GA[13], NC_000019.10:g.4167354GA[14], NC_000019.10:g.4167354GA[15], NC_000019.9:g.4167351GA[8], NC_000019.9:g.4167351GA[9], NC_000019.9:g.4167351GA[10], NC_000019.9:g.4167351GA[12], NC_000019.9:g.4167351GA[13], NC_000019.9:g.4167351GA[14], NC_000019.9:g.4167351GA[15]

Select item 149111524410.

rs1491115244 has merged into rs34277649 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4155763 (GRCh38)
19:4155760 (GRCh37)
Canonical SPDI:: NC_000019.10:4155751:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:4155751:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4155751:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4155751:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4155751:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:4155751:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.2615/1008 (ALSPAC)
-=0.2635/977 (TWINSUK)
-=0.2905/1455 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000019.10:g.4155763_4155764del, NC_000019.10:g.4155764del, NC_000019.10:g.4155764dup, NC_000019.10:g.4155763_4155764dup, NC_000019.10:g.4155762_4155764dup, NC_000019.10:g.4155755_4155764dup, NC_000019.9:g.4155760_4155761del, NC_000019.9:g.4155761del, NC_000019.9:g.4155761dup, NC_000019.9:g.4155760_4155761dup, NC_000019.9:g.4155759_4155761dup, NC_000019.9:g.4155752_4155761dup

Select item 149111246011.

rs1491112460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 19:4167994 (GRCh38)
19:4167992 (GRCh37)
Canonical SPDI:: NC_000019.10:4167994:TTATT:TTATTATT
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATTATT=0./0 (ALFA)
TTA=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4167997_4167999dup, NC_000019.9:g.4167994_4167996dup

Select item 149108765812.

rs1491087658 has merged into rs34585723 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4165349 (GRCh38)
19:4165346 (GRCh37)
Canonical SPDI:: NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4165339:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
T=0.4381/2194 (1000Genomes)
HGVS:: NC_000019.10:g.4165349_4165355del, NC_000019.10:g.4165350_4165355del, NC_000019.10:g.4165352_4165355del, NC_000019.10:g.4165353_4165355del, NC_000019.10:g.4165354_4165355del, NC_000019.10:g.4165355del, NC_000019.10:g.4165355dup, NC_000019.10:g.4165354_4165355dup, NC_000019.10:g.4165353_4165355dup, NC_000019.10:g.4165352_4165355dup, NC_000019.9:g.4165346_4165352del, NC_000019.9:g.4165347_4165352del, NC_000019.9:g.4165349_4165352del, NC_000019.9:g.4165350_4165352del, NC_000019.9:g.4165351_4165352del, NC_000019.9:g.4165352del, NC_000019.9:g.4165352dup, NC_000019.9:g.4165351_4165352dup, NC_000019.9:g.4165350_4165352dup, NC_000019.9:g.4165349_4165352dup

Select item 149107268113.

rs1491072681 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 19:4163355 (GRCh38)
19:4163352 (GRCh37)
Canonical SPDI:: NC_000019.10:4163354:GG:
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00109/2 (Korea1K)
-=0.00145/24 (TOMMO)
HGVS:: NC_000019.10:g.4163355_4163356del, NC_000019.9:g.4163352_4163353del

Select item 149091036614.

rs1490910366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:4165949 (GRCh38)
19:4165946 (GRCh37)
Canonical SPDI:: NC_000019.10:4165948:A:T
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.4165949A>T, NC_000019.9:g.4165946A>T

Select item 149083487815.

rs1490834878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4160434 (GRCh38)
19:4160431 (GRCh37)
Canonical SPDI:: NC_000019.10:4160433:C:A,NC_000019.10:4160433:C:T
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4160434C>A, NC_000019.10:g.4160434C>T, NC_000019.9:g.4160431C>A, NC_000019.9:g.4160431C>T

Select item 149082493816.

rs1490824938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4157318 (GRCh38)
19:4157315 (GRCh37)
Canonical SPDI:: NC_000019.10:4157317:C:A,NC_000019.10:4157317:C:T
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4157318C>A, NC_000019.10:g.4157318C>T, NC_000019.9:g.4157315C>A, NC_000019.9:g.4157315C>T

Select item 149081796217.

rs1490817962 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:4152935 (GRCh38)
19:4152933 (GRCh37)
Canonical SPDI:: NC_000019.10:4152935:G:GG
Gene:: CREB3L3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.4152936dup, NC_000019.9:g.4152933dup

Select item 149072088718.

rs1490720887 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:4172328 (GRCh38)
19:4172326 (GRCh37)
Canonical SPDI:: NC_000019.10:4172328:A:AA
Gene:: CREB3L3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4172329dup, NC_000019.9:g.4172326dup, NG_047153.1:g.15271dup, NM_032607.3:c.*360dup, NM_032607.2:c.*360dup, NM_001271995.2:c.*360dup, NM_001271995.1:c.*360dup, NM_001271996.2:c.*360dup, NM_001271996.1:c.*360dup, NM_001271997.2:c.*625dup, NM_001271997.1:c.*625dup

Select item 149062251919.

rs1490622519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4171881 (GRCh38)
19:4171878 (GRCh37)
Canonical SPDI:: NC_000019.10:4171880:G:A
Gene:: CREB3L3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4171881G>A, NC_000019.9:g.4171878G>A, NG_080725.1:g.250G>A, NM_032607.3:c.1298G>A, NM_032607.2:c.1298G>A, NM_001271995.2:c.1295G>A, NM_001271995.1:c.1295G>A, NM_001271996.2:c.1292G>A, NM_001271996.1:c.1292G>A, NM_001271997.2:c.*177G>A, NM_001271997.1:c.*177G>A, NP_115996.1:p.Gly433Asp, NP_001258924.1:p.Gly432Asp, NP_001258925.1:p.Gly431Asp

Select item 149058971020.

rs1490589710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:4167137 (GRCh38)
19:4167134 (GRCh37)
Canonical SPDI:: NC_000019.10:4167136:G:A,NC_000019.10:4167136:G:C
Gene:: CREB3L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
C=0.00022/1 (Estonian)
HGVS:: NC_000019.10:g.4167137G>A, NC_000019.10:g.4167137G>C, NC_000019.9:g.4167134G>A, NC_000019.9:g.4167134G>C

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