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Select item 14915626881.

rs1491562688 has merged into rs71173106 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTCTTTTTTTTTTTTTTTTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:44898539 (GRCh38)
19:45401796 (GRCh37)
Canonical SPDI:: NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:44898525:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.44898539_44898541del, NC_000019.10:g.44898540_44898541del, NC_000019.10:g.44898541del, NC_000019.10:g.44898541dup, NC_000019.10:g.44898526_44898541T[17]CTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.44898540_44898541dup, NC_000019.10:g.44898539_44898541dup, NC_000019.10:g.44898538_44898541dup, NC_000019.10:g.44898537_44898541dup, NC_000019.10:g.44898536_44898541dup, NC_000019.10:g.44898535_44898541dup, NC_000019.10:g.44898534_44898541dup, NC_000019.10:g.44898533_44898541dup, NC_000019.10:g.44898532_44898541dup, NC_000019.10:g.44898531_44898541dup, NC_000019.10:g.44898530_44898541dup, NC_000019.10:g.44898529_44898541dup, NC_000019.10:g.44898528_44898541dup, NC_000019.10:g.44898526_44898541dup, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.44898541_44898542insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401796_45401798del, NC_000019.9:g.45401797_45401798del, NC_000019.9:g.45401798del, NC_000019.9:g.45401798dup, NC_000019.9:g.45401783_45401798T[17]CTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.45401797_45401798dup, NC_000019.9:g.45401796_45401798dup, NC_000019.9:g.45401795_45401798dup, NC_000019.9:g.45401794_45401798dup, NC_000019.9:g.45401793_45401798dup, NC_000019.9:g.45401792_45401798dup, NC_000019.9:g.45401791_45401798dup, NC_000019.9:g.45401790_45401798dup, NC_000019.9:g.45401789_45401798dup, NC_000019.9:g.45401788_45401798dup, NC_000019.9:g.45401787_45401798dup, NC_000019.9:g.45401786_45401798dup, NC_000019.9:g.45401785_45401798dup, NC_000019.9:g.45401783_45401798dup, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.45401798_45401799insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12320_12322del, NG_042854.1:g.12321_12322del, NG_042854.1:g.12322del, NG_042854.1:g.12322dup, NG_042854.1:g.12307_12322T[17]CTTTTTTTTTTTTTTTTTT[1], NG_042854.1:g.12321_12322dup, NG_042854.1:g.12320_12322dup, NG_042854.1:g.12319_12322dup, NG_042854.1:g.12318_12322dup, NG_042854.1:g.12317_12322dup, NG_042854.1:g.12316_12322dup, NG_042854.1:g.12315_12322dup, NG_042854.1:g.12314_12322dup, NG_042854.1:g.12313_12322dup, NG_042854.1:g.12312_12322dup, NG_042854.1:g.12311_12322dup, NG_042854.1:g.12310_12322dup, NG_042854.1:g.12309_12322dup, NG_042854.1:g.12307_12322dup, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042854.1:g.12322_12323insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914433722.

rs1491443372 has merged into rs139644294 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 19:44899630 (GRCh38)
19:45402887 (GRCh37)
Canonical SPDI:: NC_000019.10:44899618:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:44899618:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:44899618:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:44899618:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:44899618:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:44899618:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:44899618:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000019.10:g.44899630_44899635del, NC_000019.10:g.44899632_44899635del, NC_000019.10:g.44899633_44899635del, NC_000019.10:g.44899634_44899635del, NC_000019.10:g.44899635del, NC_000019.10:g.44899635dup, NC_000019.10:g.44899634_44899635dup, NC_000019.9:g.45402887_45402892del, NC_000019.9:g.45402889_45402892del, NC_000019.9:g.45402890_45402892del, NC_000019.9:g.45402891_45402892del, NC_000019.9:g.45402892del, NC_000019.9:g.45402892dup, NC_000019.9:g.45402891_45402892dup, NG_042854.1:g.13411_13416del, NG_042854.1:g.13413_13416del, NG_042854.1:g.13414_13416del, NG_042854.1:g.13415_13416del, NG_042854.1:g.13416del, NG_042854.1:g.13416dup, NG_042854.1:g.13415_13416dup

Select item 14913629003.

rs1491362900 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:44898526 (GRCh38)
19:45401784 (GRCh37)
Canonical SPDI:: NC_000019.10:44898526::C
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.00106/87 (GnomAD)
C=0.00597/95 (TOMMO)
HGVS:: NC_000019.10:g.44898526_44898527insC, NC_000019.9:g.45401783_45401784insC, NG_042854.1:g.12307_12308insC

Select item 14912299134.

rs1491229913 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:44899618 (GRCh38)
19:45402875 (GRCh37)
Canonical SPDI:: NC_000019.10:44899617:AT:
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00042/5 (ALFA)
-=0.00072/64 (GnomAD)
HGVS:: NC_000019.10:g.44899618_44899619del, NC_000019.9:g.45402875_45402876del, NG_042854.1:g.13399_13400del

Select item 14911200235.

rs1491120023 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:44897227 (GRCh38)
19:45400484 (GRCh37)
Canonical SPDI:: NC_000019.10:44897226:TG:
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44897227_44897228del, NC_000019.9:g.45400484_45400485del, NG_042854.1:g.11008_11009del

Select item 14909637436.

rs1490963743 [Homo sapiens]

Variant type:: DEL
Alleles:: CTC>- [Show Flanks]
Chromosome:: 19:44898048 (GRCh38)
19:45401305 (GRCh37)
Canonical SPDI:: NC_000019.10:44898047:CTC:
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44898048_44898050del, NC_000019.9:g.45401305_45401307del, NG_042854.1:g.11829_11831del

Select item 14907326547.

rs1490732654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44891527 (GRCh38)
19:45394784 (GRCh37)
Canonical SPDI:: NC_000019.10:44891526:C:T
Gene:: TOMM40 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.44891527C>T, NC_000019.9:g.45394784C>T, NG_042854.1:g.5308C>T, NM_006114.3:c.112C>T, NM_006114.2:c.112C>T, NM_001128917.2:c.112C>T, NM_001128917.1:c.112C>T, NM_001128916.2:c.112C>T, NM_001128916.1:c.112C>T, XM_005258411.5:c.112C>T, XM_005258411.4:c.112C>T, XM_005258411.3:c.112C>T, XM_005258411.2:c.112C>T, XM_005258411.1:c.112C>T, XM_047438057.1:c.112C>T, NP_006105.1:p.Pro38Ser, NP_001122389.1:p.Pro38Ser, NP_001122388.1:p.Pro38Ser, XP_005258468.1:p.Pro38Ser, XP_047294013.1:p.Pro38Ser

Select item 14906066628.

rs1490606662 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:44895927 (GRCh38)
19:45399184 (GRCh37)
Canonical SPDI:: NC_000019.10:44895926:G:
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44895927del, NC_000019.9:g.45399184del, NG_042854.1:g.9708del

Select item 14905694409.

rs1490569440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:44891240 (GRCh38)
19:45394497 (GRCh37)
Canonical SPDI:: NC_000019.10:44891239:G:A,NC_000019.10:44891239:G:C
Gene:: TOMM40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44891240G>A, NC_000019.10:g.44891240G>C, NC_000019.9:g.45394497G>A, NC_000019.9:g.45394497G>C, NG_042854.1:g.5021G>A, NG_042854.1:g.5021G>C, NM_006114.2:c.-81G>A, NM_006114.2:c.-81G>C, NM_001128917.1:c.-176G>A, NM_001128917.1:c.-176G>C, NM_001128916.1:c.-84G>A, NM_001128916.1:c.-84G>C

Select item 149054480210.

rs1490544802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44903338 (GRCh38)
19:45406595 (GRCh37)
Canonical SPDI:: NC_000019.10:44903337:T:C
Gene:: TOMM40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44903338T>C, NC_000019.9:g.45406595T>C, NG_007084.2:g.2557T>C, NG_042854.1:g.17119T>C, NM_006114.3:c.*169T>C, NM_006114.2:c.*169T>C, NM_001128917.2:c.*169T>C, NM_001128917.1:c.*169T>C, NM_001128916.2:c.*169T>C, NM_001128916.1:c.*169T>C

Select item 149052136011.

rs1490521360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:44903934 (GRCh38)
19:45407191 (GRCh37)
Canonical SPDI:: NC_000019.10:44903933:G:A,NC_000019.10:44903933:G:T
Gene:: APOE (Varview), TOMM40 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.44903934G>A, NC_000019.10:g.44903934G>T, NC_000019.9:g.45407191G>A, NC_000019.9:g.45407191G>T, NG_007084.2:g.3153G>A, NG_007084.2:g.3153G>T, NG_042854.1:g.17715G>A, NG_042854.1:g.17715G>T

Select item 149017000212.

rs1490170002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:44896940 (GRCh38)
19:45400197 (GRCh37)
Canonical SPDI:: NC_000019.10:44896939:A:C,NC_000019.10:44896939:A:G
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44896940A>C, NC_000019.10:g.44896940A>G, NC_000019.9:g.45400197A>C, NC_000019.9:g.45400197A>G, NG_042854.1:g.10721A>C, NG_042854.1:g.10721A>G

Select item 148970530913.

rs1489705309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44890990 (GRCh38)
19:45394247 (GRCh37)
Canonical SPDI:: NC_000019.10:44890989:T:C
Gene:: TOMM40 (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=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44890990T>C, NC_000019.9:g.45394247T>C, NG_029149.1:g.49855T>C, NG_042854.1:g.4771T>C

Select item 148966286414.

rs1489662864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44902987 (GRCh38)
19:45406244 (GRCh37)
Canonical SPDI:: NC_000019.10:44902986:G:A
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.44902987G>A, NC_000019.9:g.45406244G>A, NG_007084.2:g.2206G>A, NG_042854.1:g.16768G>A, XM_005258411.5:c.*1538G>A, XM_047438057.1:c.*1538G>A

Select item 148948344415.

rs1489483444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44889957 (GRCh38)
19:45393214 (GRCh37)
Canonical SPDI:: NC_000019.10:44889956:G:A
Gene:: TOMM40 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.44889957G>A, NC_000019.9:g.45393214G>A, NG_029149.1:g.48822G>A, NG_042854.1:g.3738G>A

Select item 148902422416.

rs1489024224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:44901643 (GRCh38)
19:45404900 (GRCh37)
Canonical SPDI:: NC_000019.10:44901642:G:A,NC_000019.10:44901642:G:T
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000019.10:g.44901643G>A, NC_000019.10:g.44901643G>T, NC_000019.9:g.45404900G>A, NC_000019.9:g.45404900G>T, NG_007084.2:g.862G>A, NG_007084.2:g.862G>T, NG_042854.1:g.15424G>A, NG_042854.1:g.15424G>T, XM_005258411.5:c.*194G>A, XM_005258411.5:c.*194G>T, XM_047438057.1:c.*194G>A, XM_047438057.1:c.*194G>T

Select item 148888762617.

rs1488887626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:44891962 (GRCh38)
19:45395219 (GRCh37)
Canonical SPDI:: NC_000019.10:44891961:G:A,NC_000019.10:44891961:G:C
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.44891962G>A, NC_000019.10:g.44891962G>C, NC_000019.9:g.45395219G>A, NC_000019.9:g.45395219G>C, NG_042854.1:g.5743G>A, NG_042854.1:g.5743G>C

Select item 148868840818.

rs1488688408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44895304 (GRCh38)
19:45398561 (GRCh37)
Canonical SPDI:: NC_000019.10:44895303:G:A
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44895304G>A, NC_000019.9:g.45398561G>A, NG_042854.1:g.9085G>A

Select item 148861163519.

rs1488611635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:44900169 (GRCh38)
19:45403426 (GRCh37)
Canonical SPDI:: NC_000019.10:44900168:A:G,NC_000019.10:44900168:A:T
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.44900169A>G, NC_000019.10:g.44900169A>T, NC_000019.9:g.45403426A>G, NC_000019.9:g.45403426A>T, NG_042854.1:g.13950A>G, NG_042854.1:g.13950A>T

Select item 148858623120.

rs1488586231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44896098 (GRCh38)
19:45399355 (GRCh37)
Canonical SPDI:: NC_000019.10:44896097:C:T
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000495/8 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.44896098C>T, NC_000019.9:g.45399355C>T, NG_042854.1:g.9879C>T

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