SNP Links for Gene (Select 468) - SNP

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Items: 1 to 20 of 1950

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Select item 14913288141.

rs1491328814 has merged into rs928969850 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 22:39518239 (GRCh38)
22:39914244 (GRCh37)
Canonical SPDI:: NC_000022.11:39518236:AAAA:AA,NC_000022.11:39518236:AAAA:AAA
Gene:: MIEF1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39518239_39518240del, NC_000022.11:g.39518240del, NC_000022.10:g.39914244_39914245del, NC_000022.10:g.39914245del

Select item 14909641052.

rs1490964105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:39520561 (GRCh38)
22:39916566 (GRCh37)
Canonical SPDI:: NC_000022.11:39520560:C:G,NC_000022.11:39520560:C:T
Gene:: ATF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.39520561C>G, NC_000022.11:g.39520561C>T, NC_000022.10:g.39916566C>G, NC_000022.10:g.39916566C>T, NM_001675.4:c.-885C>G, NM_001675.4:c.-885C>T

Select item 14908076353.

rs1490807635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39521257 (GRCh38)
22:39917262 (GRCh37)
Canonical SPDI:: NC_000022.11:39521256:G:A
Gene:: ATF4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000071/10 (GnomAD)
HGVS:: NC_000022.11:g.39521257G>A, NC_000022.10:g.39917262G>A, NM_001675.4:c.-189G>A, NM_001675.3:c.-189G>A, NM_001675.2:c.-189G>A

Select item 14904227684.

rs1490422768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAG>- [Show Flanks]
Chromosome:: 22:39522562 (GRCh38)
22:39918567 (GRCh37)
Canonical SPDI:: NC_000022.11:39522559:AGAAGAG:AG
Gene:: ATF4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39522562_39522566del, NC_000022.10:g.39918567_39918571del, NM_001675.4:c.1016_1020del, NM_001675.3:c.1016_1020del, NM_001675.2:c.1016_1020del, NM_182810.3:c.1016_1020del, NM_182810.2:c.1016_1020del, NM_182810.1:c.1016_1020del, NP_001666.2:p.Glu339fs, NP_877962.1:p.Glu339fs

Select item 14899633945.

rs1489963394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:39519416 (GRCh38)
22:39915421 (GRCh37)
Canonical SPDI:: NC_000022.11:39519415:C:A,NC_000022.11:39519415:C:G
Gene:: ATF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39519416C>A, NC_000022.11:g.39519416C>G, NC_000022.10:g.39915421C>A, NC_000022.10:g.39915421C>G

Select item 14895103766.

rs1489510376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:39521728 (GRCh38)
22:39917733 (GRCh37)
Canonical SPDI:: NC_000022.11:39521727:C:G,NC_000022.11:39521727:C:T
Gene:: ATF4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39521728C>G, NC_000022.11:g.39521728C>T, NC_000022.10:g.39917733C>G, NC_000022.10:g.39917733C>T

Select item 14892942787.

rs1489294278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:39520787 (GRCh38)
22:39916792 (GRCh37)
Canonical SPDI:: NC_000022.11:39520786:G:A,NC_000022.11:39520786:G:C,NC_000022.11:39520786:G:T
Gene:: ATF4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39520787G>A, NC_000022.11:g.39520787G>C, NC_000022.11:g.39520787G>T, NC_000022.10:g.39916792G>A, NC_000022.10:g.39916792G>C, NC_000022.10:g.39916792G>T, NM_001675.4:c.-659G>A, NM_001675.4:c.-659G>C, NM_001675.4:c.-659G>T, NM_001675.3:c.-659G>A, NM_001675.3:c.-659G>C, NM_001675.3:c.-659G>T, NM_001675.2:c.-659G>A, NM_001675.2:c.-659G>C, NM_001675.2:c.-659G>T

Select item 14892433978.

rs1489243397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39520374 (GRCh38)
22:39916379 (GRCh37)
Canonical SPDI:: NC_000022.11:39520373:G:A
Gene:: ATF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000022.11:g.39520374G>A, NC_000022.10:g.39916379G>A

Select item 14889480299.

rs1488948029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTG [Show Flanks]
Chromosome:: 22:39518216 (GRCh38)
22:39914222 (GRCh37)
Canonical SPDI:: NC_000022.11:39518216:TGTTTG:TGTTTGTTTG
Gene:: MIEF1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTTGTTTG=0./0 (ALFA)
TGTT=0.000004/1 (TOPMED)
TGTT=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39518219_39518222dup, NC_000022.10:g.39914224_39914227dup

Select item 148866852610.

rs1488668526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39522357 (GRCh38)
22:39918362 (GRCh37)
Canonical SPDI:: NC_000022.11:39522356:G:A
Gene:: ATF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.39522357G>A, NC_000022.10:g.39918362G>A, NM_001675.4:c.811G>A, NM_001675.3:c.811G>A, NM_001675.2:c.811G>A, NM_182810.3:c.811G>A, NM_182810.2:c.811G>A, NM_182810.1:c.811G>A, NP_001666.2:p.Ala271Thr, NP_877962.1:p.Ala271Thr

Select item 148861059511.

rs1488610595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:39522814 (GRCh38)
22:39918819 (GRCh37)
Canonical SPDI:: NC_000022.11:39522813:C:G,NC_000022.11:39522813:C:T
Gene:: ATF4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.39522814C>G, NC_000022.11:g.39522814C>T, NC_000022.10:g.39918819C>G, NC_000022.10:g.39918819C>T

Select item 148816174912.

rs1488161749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:39517765 (GRCh38)
22:39913770 (GRCh37)
Canonical SPDI:: NC_000022.11:39517764:T:A
Gene:: MIEF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39517765T>A, NC_000022.10:g.39913770T>A, NM_019008.6:c.*3442T>A, NM_019008.5:c.*3442T>A, NM_019008.4:c.*3442T>A, NR_130790.2:n.5385T>A, NR_130789.2:n.5235T>A, NR_130789.1:n.5295T>A, NM_001304564.2:c.*2392T>A, NM_001304564.1:c.*2392T>A, NM_001394030.1:c.*4974T>A

Select item 148800948813.

rs1488009488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:39518538 (GRCh38)
22:39914543 (GRCh37)
Canonical SPDI:: NC_000022.11:39518537:A:C
Gene:: MIEF1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000214/3 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000022.11:g.39518538A>C, NC_000022.10:g.39914543A>C

Select item 148792890214.

rs1487928902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39522982 (GRCh38)
22:39918987 (GRCh37)
Canonical SPDI:: NC_000022.11:39522981:G:A
Gene:: ATF4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.39522982G>A, NC_000022.10:g.39918987G>A

Select item 148786874815.

rs1487868748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:39522421 (GRCh38)
22:39918426 (GRCh37)
Canonical SPDI:: NC_000022.11:39522420:C:G,NC_000022.11:39522420:C:T
Gene:: ATF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39522421C>G, NC_000022.11:g.39522421C>T, NC_000022.10:g.39918426C>G, NC_000022.10:g.39918426C>T, NM_001675.4:c.875C>G, NM_001675.4:c.875C>T, NM_001675.3:c.875C>G, NM_001675.3:c.875C>T, NM_001675.2:c.875C>G, NM_001675.2:c.875C>T, NM_182810.3:c.875C>G, NM_182810.3:c.875C>T, NM_182810.2:c.875C>G, NM_182810.2:c.875C>T, NM_182810.1:c.875C>G, NM_182810.1:c.875C>T, NP_001666.2:p.Ala292Gly, NP_001666.2:p.Ala292Val, NP_877962.1:p.Ala292Gly, NP_877962.1:p.Ala292Val

Select item 148778526316.

rs1487785263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39520860 (GRCh38)
22:39916865 (GRCh37)
Canonical SPDI:: NC_000022.11:39520859:T:C
Gene:: ATF4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.39520860T>C, NC_000022.10:g.39916865T>C, NM_001675.4:c.-586T>C, NM_001675.3:c.-586T>C, NM_001675.2:c.-586T>C

Select item 148713323817.

rs1487133238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39519618 (GRCh38)
22:39915623 (GRCh37)
Canonical SPDI:: NC_000022.11:39519617:C:T
Gene:: ATF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000022.11:g.39519618C>T, NC_000022.10:g.39915623C>T

Select item 148619556818.

rs1486195568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39521000 (GRCh38)
22:39917005 (GRCh37)
Canonical SPDI:: NC_000022.11:39520999:C:T
Gene:: ATF4 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39521000C>T, NC_000022.10:g.39917005C>T, NM_001675.4:c.-446C>T, NM_001675.3:c.-446C>T, NM_001675.2:c.-446C>T

Select item 148597955119.

rs1485979551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39520731 (GRCh38)
22:39916736 (GRCh37)
Canonical SPDI:: NC_000022.11:39520730:C:T
Gene:: ATF4 (Varview)
Functional Consequence:: 5_prime_UTR_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_000022.11:g.39520731C>T, NC_000022.10:g.39916736C>T, NM_001675.4:c.-715C>T, NM_001675.3:c.-715C>T, NM_001675.2:c.-715C>T, NM_182810.3:c.-113C>T, NM_182810.2:c.-113C>T, NM_182810.1:c.-113C>T

Select item 148579215320.

rs1485792153 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 22:39518122 (GRCh38)
22:39914127 (GRCh37)
Canonical SPDI:: NC_000022.11:39518119:CTCCT:CT
Gene:: MIEF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.39518122_39518124del, NC_000022.10:g.39914127_39914129del, NM_019008.6:c.*3799_*3801del, NM_019008.5:c.*3799_*3801del, NM_019008.4:c.*3799_*3801del, NR_130790.2:n.5742_5744del, NR_130789.2:n.5592_5594del, NR_130789.1:n.5652_5654del, NM_001304564.2:c.*2749_*2751del, NM_001304564.1:c.*2749_*2751del, NM_001394030.1:c.*5331_*5333del

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