SNP Links for Gene (Select 11015) - SNP

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Select item 14915868011.

rs1491586801 has merged into rs138431 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 22:38478545 (GRCh38)
22:38874550 (GRCh37)
Canonical SPDI:: NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:38478534:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.38478545_38478551del, NC_000022.11:g.38478547_38478551del, NC_000022.11:g.38478548_38478551del, NC_000022.11:g.38478549_38478551del, NC_000022.11:g.38478550_38478551del, NC_000022.11:g.38478551del, NC_000022.11:g.38478551dup, NC_000022.11:g.38478550_38478551dup, NC_000022.11:g.38478549_38478551dup, NC_000022.11:g.38478548_38478551dup, NC_000022.10:g.38874550_38874556del, NC_000022.10:g.38874552_38874556del, NC_000022.10:g.38874553_38874556del, NC_000022.10:g.38874554_38874556del, NC_000022.10:g.38874555_38874556del, NC_000022.10:g.38874556del, NC_000022.10:g.38874556dup, NC_000022.10:g.38874555_38874556dup, NC_000022.10:g.38874554_38874556dup, NC_000022.10:g.38874553_38874556dup

Select item 14915245532.

rs1491524553 has merged into rs1256274094 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 22:38476838 (GRCh38)
22:38872843 (GRCh37)
Canonical SPDI:: NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:38476828:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.38476838_38476844del, NC_000022.11:g.38476840_38476844del, NC_000022.11:g.38476841_38476844del, NC_000022.11:g.38476842_38476844del, NC_000022.11:g.38476843_38476844del, NC_000022.11:g.38476844del, NC_000022.11:g.38476844dup, NC_000022.11:g.38476843_38476844dup, NC_000022.11:g.38476842_38476844dup, NC_000022.11:g.38476841_38476844dup, NC_000022.10:g.38872843_38872849del, NC_000022.10:g.38872845_38872849del, NC_000022.10:g.38872846_38872849del, NC_000022.10:g.38872847_38872849del, NC_000022.10:g.38872848_38872849del, NC_000022.10:g.38872849del, NC_000022.10:g.38872849dup, NC_000022.10:g.38872848_38872849dup, NC_000022.10:g.38872847_38872849dup, NC_000022.10:g.38872846_38872849dup

Select item 14915150513.

rs1491515051 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 22:38476895 (GRCh38)
22:38872900 (GRCh37)
Canonical SPDI:: NC_000022.11:38476893:CTC:C
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0035/13 (TWINSUK)
-=0.0044/17 (ALSPAC)
HGVS:: NC_000022.11:g.38476895_38476896del, NC_000022.10:g.38872900_38872901del

Select item 14913705094.

rs1491370509 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:38477208 (GRCh38)
22:38873213 (GRCh37)
Canonical SPDI:: NC_000022.11:38477207:CA:
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.38477208_38477209del, NC_000022.10:g.38873213_38873214del

Select item 14912562955.

rs1491256295 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:38477208 (GRCh38)
22:38873214 (GRCh37)
Canonical SPDI:: NC_000022.11:38477208:A:AA
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000059/8 (GnomAD)
A=0.000144/38 (TOPMED)
HGVS:: NC_000022.11:g.38477209dup, NC_000022.10:g.38873214dup

Select item 14912391236.

rs1491239123 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:38476828 (GRCh38)
22:38872833 (GRCh37)
Canonical SPDI:: NC_000022.11:38476827:CT:
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000422/5 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000493/68 (GnomAD)
HGVS:: NC_000022.11:g.38476828_38476829del, NC_000022.10:g.38872833_38872834del

Select item 14912174857.

rs1491217485 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:38478791 (GRCh38)
22:38874797 (GRCh37)
Canonical SPDI:: NC_000022.11:38478791::A
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002461/11 (ALFA)
A=0.000071/1 (TOMMO)
A=0.000079/11 (GnomAD)
A=0.002455/11 (Estonian)
HGVS:: NC_000022.11:g.38478791_38478792insA, NC_000022.10:g.38874796_38874797insA

Select item 14911453368.

rs1491145336 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:38478535 (GRCh38)
22:38874541 (GRCh37)
Canonical SPDI:: NC_000022.11:38478535::G
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00205/23 (GnomAD)
HGVS:: NC_000022.11:g.38478535_38478536insG, NC_000022.10:g.38874540_38874541insG

Select item 14911358709.

rs1491135870 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 22:38478792 (GRCh38)
22:38874797 (GRCh37)
Canonical SPDI:: NC_000022.11:38478790:CGC:C
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000927/11 (ALFA)
-=0.001093/7 (1000Genomes)
-=0.001238/172 (GnomAD)
-=0.001258/333 (TOPMED)
HGVS:: NC_000022.11:g.38478792_38478793del, NC_000022.10:g.38874797_38874798del

Select item 149087404710.

rs1490874047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38482232 (GRCh38)
22:38878237 (GRCh37)
Canonical SPDI:: NC_000022.11:38482231:G:A
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.38482232G>A, NC_000022.10:g.38878237G>A, NG_029642.1:g.29109C>T

Select item 149080356811.

rs1490803568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:38481565 (GRCh38)
22:38877570 (GRCh37)
Canonical SPDI:: NC_000022.11:38481564:G:T
Gene:: KDELR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.38481565G>T, NC_000022.10:g.38877570G>T, NG_029642.1:g.29776C>A, NM_016657.3:c.*42G>T, NM_016657.2:c.*42G>T

Select item 149076010112.

rs1490760101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38468412 (GRCh38)
22:38864417 (GRCh37)
Canonical SPDI:: NC_000022.11:38468411:G:A
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.38468412G>A, NC_000022.10:g.38864417G>A

Select item 149074249313.

rs1490742493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:38478614 (GRCh38)
22:38874619 (GRCh37)
Canonical SPDI:: NC_000022.11:38478613:G:A,NC_000022.11:38478613:G:T
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000067/8 (GnomAD)
HGVS:: NC_000022.11:g.38478614G>A, NC_000022.11:g.38478614G>T, NC_000022.10:g.38874619G>A, NC_000022.10:g.38874619G>T

Select item 149063763614.

rs1490637636 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:38481909 (GRCh38)
22:38877914 (GRCh37)
Canonical SPDI:: NC_000022.11:38481908:CT:
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.38481909_38481910del, NC_000022.10:g.38877914_38877915del, NG_029642.1:g.29431_29432del

Select item 149061973715.

rs1490619737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:38469479 (GRCh38)
22:38865484 (GRCh37)
Canonical SPDI:: NC_000022.11:38469478:A:G
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.38469479A>G, NC_000022.10:g.38865484A>G

Select item 149041617416.

rs1490416174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:38476280 (GRCh38)
22:38872285 (GRCh37)
Canonical SPDI:: NC_000022.11:38476279:G:A,NC_000022.11:38476279:G:C,NC_000022.11:38476279:G:T
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000106/3 (TOMMO)
HGVS:: NC_000022.11:g.38476280G>A, NC_000022.11:g.38476280G>C, NC_000022.11:g.38476280G>T, NC_000022.10:g.38872285G>A, NC_000022.10:g.38872285G>C, NC_000022.10:g.38872285G>T

Select item 149031386217.

rs1490313862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:38481245 (GRCh38)
22:38877250 (GRCh37)
Canonical SPDI:: NC_000022.11:38481244:G:C,NC_000022.11:38481244:G:T
Gene:: KDELR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.38481245G>C, NC_000022.11:g.38481245G>T, NC_000022.10:g.38877250G>C, NC_000022.10:g.38877250G>T, NM_006855.4:c.385G>C, NM_006855.4:c.385G>T, NM_006855.3:c.385G>C, NM_006855.3:c.385G>T, NM_016657.3:c.385G>C, NM_016657.3:c.385G>T, NM_016657.2:c.385G>C, NM_016657.2:c.385G>T, NP_006846.1:p.Val129Leu, NP_006846.1:p.Val129Leu, NP_057839.1:p.Val129Leu, NP_057839.1:p.Val129Leu

Select item 149025437718.

rs1490254377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:38467269 (GRCh38)
22:38863274 (GRCh37)
Canonical SPDI:: NC_000022.11:38467268:C:T
Gene:: KDELR3 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38467269C>T, NC_000022.10:g.38863274C>T

Select item 148981055819.

rs1489810558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:38478625 (GRCh38)
22:38874630 (GRCh37)
Canonical SPDI:: NC_000022.11:38478624:T:A,NC_000022.11:38478624:T:C
Gene:: KDELR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000337/4 (ALFA)
C=0.000062/7 (GnomAD)
C=0.000379/6 (TOMMO)
C=0.000468/3 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000022.11:g.38478625T>A, NC_000022.11:g.38478625T>C, NC_000022.10:g.38874630T>A, NC_000022.10:g.38874630T>C

Select item 148980637720.

rs1489806377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:38481292 (GRCh38)
22:38877297 (GRCh37)
Canonical SPDI:: NC_000022.11:38481291:T:C
Gene:: KDELR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.38481292T>C, NC_000022.10:g.38877297T>C, NM_006855.4:c.432T>C, NM_006855.3:c.432T>C, NM_016657.3:c.432T>C, NM_016657.2:c.432T>C

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