SNP Links for Gene (Select 101928371) - SNP

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Select item 14915649291.

rs1491564929 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:88567353 (GRCh38)
2:88866872 (GRCh37)
Canonical SPDI:: NC_000002.12:88567353:G:GG
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000356/5 (ALFA)
G=0.000276/73 (TOPMED)
G=0.000278/39 (GnomAD)
HGVS:: NC_000002.12:g.88567354dup, NC_000002.11:g.88866872dup, NG_016424.1:g.65223dup

Select item 14915352872.

rs1491535287 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:88550913 (GRCh38)
2:88850431 (GRCh37)
Canonical SPDI:: NC_000002.12:88550912:GT:
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.88550913_88550914del, NC_000002.11:g.88850431_88850432del

Select item 14915114073.

rs1491511407 has merged into rs35017302 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:88550924 (GRCh38)
2:88850442 (GRCh37)
Canonical SPDI:: NC_000002.12:88550913:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:88550913:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:88550913:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:88550913:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:88550913:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2855/1430 (1000Genomes)
-=0.3158/1217 (ALSPAC)
HGVS:: NC_000002.12:g.88550924_88550926del, NC_000002.12:g.88550925_88550926del, NC_000002.12:g.88550926del, NC_000002.12:g.88550926dup, NC_000002.12:g.88550925_88550926dup, NC_000002.11:g.88850442_88850444del, NC_000002.11:g.88850443_88850444del, NC_000002.11:g.88850444del, NC_000002.11:g.88850444dup, NC_000002.11:g.88850443_88850444dup

Select item 14913654584.

rs1491365458 has merged into rs777731391 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 2:88544916 (GRCh38)
2:88844434 (GRCh37)
Canonical SPDI:: NC_000002.12:88544908:AAAAAAAAAAA:AAAAAAA,NC_000002.12:88544908:AAAAAAAAAAA:AAAAAAAA,NC_000002.12:88544908:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:88544908:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:88544908:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:88544908:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:88544908:AAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.248634/455 (Korea1K)
A=0.298132/1149 (ALSPAC)
A=0.3/12 (GENOME_DK)
A=0.305286/1132 (TWINSUK)
HGVS:: NC_000002.12:g.88544916_88544919del, NC_000002.12:g.88544917_88544919del, NC_000002.12:g.88544918_88544919del, NC_000002.12:g.88544919del, NC_000002.12:g.88544919dup, NC_000002.12:g.88544918_88544919dup, NC_000002.12:g.88544916_88544919dup, NC_000002.11:g.88844434_88844437del, NC_000002.11:g.88844435_88844437del, NC_000002.11:g.88844436_88844437del, NC_000002.11:g.88844437del, NC_000002.11:g.88844437dup, NC_000002.11:g.88844436_88844437dup, NC_000002.11:g.88844434_88844437dup

Select item 14913279225.

rs1491327922 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:88540994 (GRCh38)
2:88840512 (GRCh37)
Canonical SPDI:: NC_000002.12:88540993:CA:
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.88540994_88540995del, NC_000002.11:g.88840512_88840513del

Select item 14911379646.

rs1491137964 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:88560745 (GRCh38)
2:88860263 (GRCh37)
Canonical SPDI:: NC_000002.12:88560743:TGT:T
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.88560745_88560746del, NC_000002.11:g.88860263_88860264del, NG_016424.1:g.71832_71833del

Select item 14910468387.

rs1491046838 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 2:88559544 (GRCh38)
2:88859062 (GRCh37)
Canonical SPDI:: NC_000002.12:88559542:TAT:T,NC_000002.12:88559542:TAT:TATAT
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.88559544_88559545del, NC_000002.12:g.88559544_88559545dup, NC_000002.11:g.88859062_88859063del, NC_000002.11:g.88859062_88859063dup, NG_016424.1:g.73033_73034del, NG_016424.1:g.73033_73034dup

Select item 14910262578.

rs1491026257 has merged into rs112158228 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:88573121 (GRCh38)
2:88872639 (GRCh37)
Canonical SPDI:: NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:88573110:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.00095/16 (TOMMO)
T=0.04667/28 (NorthernSweden)
HGVS:: NC_000002.12:g.88573121_88573125del, NC_000002.12:g.88573122_88573125del, NC_000002.12:g.88573123_88573125del, NC_000002.12:g.88573124_88573125del, NC_000002.12:g.88573125del, NC_000002.12:g.88573125dup, NC_000002.12:g.88573124_88573125dup, NC_000002.12:g.88573123_88573125dup, NC_000002.12:g.88573113_88573125dup, NC_000002.12:g.88573112_88573125dup, NC_000002.12:g.88573125_88573126insTTTTTTTTTTTTTTTTTT, NC_000002.11:g.88872639_88872643del, NC_000002.11:g.88872640_88872643del, NC_000002.11:g.88872641_88872643del, NC_000002.11:g.88872642_88872643del, NC_000002.11:g.88872643del, NC_000002.11:g.88872643dup, NC_000002.11:g.88872642_88872643dup, NC_000002.11:g.88872641_88872643dup, NC_000002.11:g.88872631_88872643dup, NC_000002.11:g.88872630_88872643dup, NC_000002.11:g.88872643_88872644insTTTTTTTTTTTTTTTTTT, NG_016424.1:g.59462_59466del, NG_016424.1:g.59463_59466del, NG_016424.1:g.59464_59466del, NG_016424.1:g.59465_59466del, NG_016424.1:g.59466del, NG_016424.1:g.59466dup, NG_016424.1:g.59465_59466dup, NG_016424.1:g.59464_59466dup, NG_016424.1:g.59454_59466dup, NG_016424.1:g.59453_59466dup, NG_016424.1:g.59466_59467insAAAAAAAAAAAAAAAAAA

Select item 14908764769.

rs1490876476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88545052 (GRCh38)
2:88844570 (GRCh37)
Canonical SPDI:: NC_000002.12:88545051:C:T
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.88545052C>T, NC_000002.11:g.88844570C>T

Select item 149087538810.

rs1490875388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:88570522 (GRCh38)
2:88870040 (GRCh37)
Canonical SPDI:: NC_000002.12:88570521:G:C
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.88570522G>C, NC_000002.11:g.88870040G>C, NG_016424.1:g.62055C>G

Select item 149078168711.

rs1490781687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:88559877 (GRCh38)
2:88859395 (GRCh37)
Canonical SPDI:: NC_000002.12:88559876:T:C
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.88559877T>C, NC_000002.11:g.88859395T>C, NG_016424.1:g.72700A>G

Select item 149064123912.

rs1490641239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:88560894 (GRCh38)
2:88860412 (GRCh37)
Canonical SPDI:: NC_000002.12:88560893:A:G
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.88560894A>G, NC_000002.11:g.88860412A>G, NG_016424.1:g.71683T>C

Select item 149052397913.

rs1490523979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:88548295 (GRCh38)
2:88847813 (GRCh37)
Canonical SPDI:: NC_000002.12:88548294:C:T
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_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_000002.12:g.88548295C>T, NC_000002.11:g.88847813C>T

Select item 149049907614.

rs1490499076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:88570171 (GRCh38)
2:88869689 (GRCh37)
Canonical SPDI:: NC_000002.12:88570170:A:C
Gene:: EIF2AK3 (Varview), LOC101928371 (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_000002.12:g.88570171A>C, NC_000002.11:g.88869689A>C, NG_016424.1:g.62406T>G

Select item 149049057815.

rs1490490578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:88557774 (GRCh38)
2:88857292 (GRCh37)
Canonical SPDI:: NC_000002.12:88557773:G:A
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: stop_gained,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.88557774G>A, NC_000002.11:g.88857292G>A, NG_016424.1:g.74803C>T, NM_004836.7:c.3313C>T, NM_004836.6:c.3313C>T, NM_004836.5:c.3313C>T, NM_001313915.2:c.2860C>T, NM_001313915.1:c.2860C>T, XM_047446428.1:c.3022C>T, XM_047446429.1:c.2629C>T, NP_004827.4:p.Gln1105Ter, NP_001300844.1:p.Gln954Ter, XP_047302384.1:p.Gln1008Ter, XP_047302385.1:p.Gln877Ter

Select item 149047115216.

rs1490471152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:88553821 (GRCh38)
2:88853339 (GRCh37)
Canonical SPDI:: NC_000002.12:88553820:T:C
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.88553821T>C, NC_000002.11:g.88853339T>C

Select item 149038190817.

rs1490381908 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: 2:88570076 (GRCh38)
2:88869594 (GRCh37)
Canonical SPDI:: NC_000002.12:88570073:TTATTT:TT
Gene:: EIF2AK3 (Varview), LOC101928371 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.88570076_88570079del, NC_000002.11:g.88869594_88869597del, NG_016424.1:g.62500_62503del

Select item 149031988418.

rs1490319884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:88548150 (GRCh38)
2:88847668 (GRCh37)
Canonical SPDI:: NC_000002.12:88548149:G:A,NC_000002.12:88548149:G:T
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.88548150G>A, NC_000002.12:g.88548150G>T, NC_000002.11:g.88847668G>A, NC_000002.11:g.88847668G>T

Select item 149019184619.

rs1490191846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:88549109 (GRCh38)
2:88848627 (GRCh37)
Canonical SPDI:: NC_000002.12:88549108:C:A,NC_000002.12:88549108:C:T
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00006/1 (TOMMO)
T=0.00006/8 (GnomAD)
HGVS:: NC_000002.12:g.88549109C>A, NC_000002.12:g.88549109C>T, NC_000002.11:g.88848627C>A, NC_000002.11:g.88848627C>T

Select item 148988001820.

rs1489880018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:88540981 (GRCh38)
2:88840499 (GRCh37)
Canonical SPDI:: NC_000002.12:88540980:C:A
Gene:: LOC101928371 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00177/21 (ALFA)
A=0.02357/69 (KOREAN)
HGVS:: NC_000002.12:g.88540981C>A, NC_000002.11:g.88840499C>A

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