SNP Links for Gene (Select 84883) - SNP

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Select item 14908767261.

rs1490876726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:70131504 (GRCh38)
10:71891260 (GRCh37)
Canonical SPDI:: NC_000010.11:70131503:G:C
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.70131504G>C, NC_000010.10:g.71891260G>C

Select item 14908503102.

rs1490850310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:70115159 (GRCh38)
10:71874915 (GRCh37)
Canonical SPDI:: NC_000010.11:70115158:T:C,NC_000010.11:70115158:T:G
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000010.11:g.70115159T>C, NC_000010.11:g.70115159T>G, NC_000010.10:g.71874915T>C, NC_000010.10:g.71874915T>G

Select item 14904202753.

rs1490420275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70115701 (GRCh38)
10:71875457 (GRCh37)
Canonical SPDI:: NC_000010.11:70115700:G:A
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_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_000010.11:g.70115701G>A, NC_000010.10:g.71875457G>A

Select item 14904003824.

rs1490400382 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 10:70126289 (GRCh38)
10:71886045 (GRCh37)
Canonical SPDI:: NC_000010.11:70126285:AAAGAAA:AAA
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70126289_70126292del, NC_000010.10:g.71886045_71886048del

Select item 14902022095.

rs1490202209 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCA>- [Show Flanks]
Chromosome:: 10:70122765 (GRCh38)
10:71882521 (GRCh37)
Canonical SPDI:: NC_000010.11:70122763:ACCA:A
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.70122765_70122767del, NC_000010.10:g.71882521_71882523del

Select item 14900721736.

rs1490072173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:70128391 (GRCh38)
10:71888147 (GRCh37)
Canonical SPDI:: NC_000010.11:70128390:A:G
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70128391A>G, NC_000010.10:g.71888147A>G

Select item 14899258927.

rs1489925892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70125118 (GRCh38)
10:71884874 (GRCh37)
Canonical SPDI:: NC_000010.11:70125117:G:A
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70125118G>A, NC_000010.10:g.71884874G>A

Select item 14899107978.

rs1489910797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:70127203 (GRCh38)
10:71886959 (GRCh37)
Canonical SPDI:: NC_000010.11:70127202:T:A
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70127203T>A, NC_000010.10:g.71886959T>A

Select item 14894415109.

rs1489441510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:70120879 (GRCh38)
10:71880635 (GRCh37)
Canonical SPDI:: NC_000010.11:70120878:C:A,NC_000010.11:70120878:C:T
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.70120879C>A, NC_000010.11:g.70120879C>T, NC_000010.10:g.71880635C>A, NC_000010.10:g.71880635C>T

Select item 148939767910.

rs1489397679 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:70126991 (GRCh38)
10:71886747 (GRCh37)
Canonical SPDI:: NC_000010.11:70126990:G:
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.70126991del, NC_000010.10:g.71886747del

Select item 148934072911.

rs1489340729 has merged into rs57027436 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 10:70133112 (GRCh38)
10:71892868 (GRCh37)
Canonical SPDI:: NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:70133098:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: AIFM2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGA=0./0 (ALFA)
AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG=0.0042/21 (1000Genomes)
AGAGAGAGAGAGAGAGAGAGAG=0.05/2 (GENOME_DK)
HGVS:: NC_000010.11:g.70133100GA[6], NC_000010.11:g.70133100GA[7], NC_000010.11:g.70133100GA[8], NC_000010.11:g.70133100GA[9], NC_000010.11:g.70133100GA[10], NC_000010.11:g.70133100GA[11], NC_000010.11:g.70133100GA[12], NC_000010.11:g.70133100GA[13], NC_000010.11:g.70133100GA[14], NC_000010.11:g.70133100GA[15], NC_000010.11:g.70133100GA[16], NC_000010.11:g.70133100GA[17], NC_000010.11:g.70133100GA[18], NC_000010.11:g.70133100GA[19], NC_000010.11:g.70133100GA[20], NC_000010.11:g.70133100GA[21], NC_000010.11:g.70133100GA[22], NC_000010.11:g.70133100GA[23], NC_000010.11:g.70133100GA[24], NC_000010.11:g.70133100GA[25], NC_000010.11:g.70133100GA[26], NC_000010.11:g.70133100GA[27], NC_000010.11:g.70133100GA[28], NC_000010.11:g.70133100GA[30], NC_000010.11:g.70133100GA[31], NC_000010.11:g.70133100GA[32], NC_000010.11:g.70133100GA[33], NC_000010.11:g.70133100GA[34], NC_000010.11:g.70133100GA[35], NC_000010.11:g.70133100GA[36], NC_000010.11:g.70133100GA[37], NC_000010.11:g.70133100GA[38], NC_000010.11:g.70133100GA[39], NC_000010.11:g.70133100GA[40], NC_000010.11:g.70133100GA[42], NC_000010.11:g.70133100GA[43], NC_000010.10:g.71892856GA[6], NC_000010.10:g.71892856GA[7], NC_000010.10:g.71892856GA[8], NC_000010.10:g.71892856GA[9], NC_000010.10:g.71892856GA[10], NC_000010.10:g.71892856GA[11], NC_000010.10:g.71892856GA[12], NC_000010.10:g.71892856GA[13], NC_000010.10:g.71892856GA[14], NC_000010.10:g.71892856GA[15], NC_000010.10:g.71892856GA[16], NC_000010.10:g.71892856GA[17], NC_000010.10:g.71892856GA[18], NC_000010.10:g.71892856GA[19], NC_000010.10:g.71892856GA[20], NC_000010.10:g.71892856GA[21], NC_000010.10:g.71892856GA[22], NC_000010.10:g.71892856GA[23], NC_000010.10:g.71892856GA[24], NC_000010.10:g.71892856GA[25], NC_000010.10:g.71892856GA[26], NC_000010.10:g.71892856GA[27], NC_000010.10:g.71892856GA[28], NC_000010.10:g.71892856GA[30], NC_000010.10:g.71892856GA[31], NC_000010.10:g.71892856GA[32], NC_000010.10:g.71892856GA[33], NC_000010.10:g.71892856GA[34], NC_000010.10:g.71892856GA[35], NC_000010.10:g.71892856GA[36], NC_000010.10:g.71892856GA[37], NC_000010.10:g.71892856GA[38], NC_000010.10:g.71892856GA[39], NC_000010.10:g.71892856GA[40], NC_000010.10:g.71892856GA[42], NC_000010.10:g.71892856GA[43]

Select item 148908675212.

rs1489086752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:70116812 (GRCh38)
10:71876568 (GRCh37)
Canonical SPDI:: NC_000010.11:70116811:A:G
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70116812A>G, NC_000010.10:g.71876568A>G

Select item 148904300113.

rs1489043001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:70117805 (GRCh38)
10:71877561 (GRCh37)
Canonical SPDI:: NC_000010.11:70117804:C:T
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.70117805C>T, NC_000010.10:g.71877561C>T

Select item 148901356114.

rs1489013561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:70117733 (GRCh38)
10:71877489 (GRCh37)
Canonical SPDI:: NC_000010.11:70117732:C:A
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70117733C>A, NC_000010.10:g.71877489C>A

Select item 148896205115.

rs1488962051 [Homo sapiens]

Variant type:: DEL
Alleles:: TACAAAAAAAAAAAAA>- [Show Flanks]
Chromosome:: 10:70125435 (GRCh38)
10:71885191 (GRCh37)
Canonical SPDI:: NC_000010.11:70125434:TACAAAAAAAAAAAAA:
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00228/27 (ALFA)
-=0.0001/4 (GnomAD)
-=0.00012/2 (TOMMO)
HGVS:: NC_000010.11:g.70125435_70125450del, NC_000010.10:g.71885191_71885206del

Select item 148882730116.

rs1488827301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:70112638 (GRCh38)
10:71872394 (GRCh37)
Canonical SPDI:: NC_000010.11:70112637:A:G
Gene:: MACROH2A2 (Varview), AIFM2 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70112638A>G, NC_000010.10:g.71872394A>G, NM_032797.6:c.*1540T>C, NM_032797.5:c.*1540T>C, NM_001198696.2:c.*1540T>C, NM_001198696.1:c.*1540T>C

Select item 148879671417.

rs1488796714 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:70113687 (GRCh38)
10:71873443 (GRCh37)
Canonical SPDI:: NC_000010.11:70113683:AGAGA:AGA
Gene:: AIFM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70113685GA[1], NC_000010.10:g.71873441GA[1], NM_032797.6:c.*491CT[1], NM_032797.5:c.*491CT[1], NM_001198696.2:c.*491CT[1], NM_001198696.1:c.*491CT[1]

Select item 148875681018.

rs1488756810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:70128429 (GRCh38)
10:71888185 (GRCh37)
Canonical SPDI:: NC_000010.11:70128428:A:T
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70128429A>T, NC_000010.10:g.71888185A>T

Select item 148856163119.

rs1488561631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:70120515 (GRCh38)
10:71880271 (GRCh37)
Canonical SPDI:: NC_000010.11:70120514:C:T
Gene:: AIFM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.70120515C>T, NC_000010.10:g.71880271C>T, NM_032797.6:c.499G>A, NM_032797.5:c.499G>A, NM_001198696.2:c.499G>A, NM_001198696.1:c.499G>A, NP_116186.1:p.Glu167Lys, NP_001185625.1:p.Glu167Lys

Select item 148851123920.

rs1488511239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:70124644 (GRCh38)
10:71884400 (GRCh37)
Canonical SPDI:: NC_000010.11:70124643:C:T
Gene:: AIFM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70124644C>T, NC_000010.10:g.71884400C>T

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