SNP Links for Gene (Select 84285) - SNP

Links from Gene

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Select item 14914317751.

rs1491431775 has merged into rs34018930 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:65996403 (GRCh38)
11:65763874 (GRCh37)
Canonical SPDI:: NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65996392:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: EIF1AD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2055/792 (ALSPAC)
-=0.3419/1712 (1000Genomes)
HGVS:: NC_000011.10:g.65996403_65996407del, NC_000011.10:g.65996404_65996407del, NC_000011.10:g.65996405_65996407del, NC_000011.10:g.65996406_65996407del, NC_000011.10:g.65996407del, NC_000011.10:g.65996407dup, NC_000011.10:g.65996406_65996407dup, NC_000011.10:g.65996401_65996407dup, NC_000011.9:g.65763874_65763878del, NC_000011.9:g.65763875_65763878del, NC_000011.9:g.65763876_65763878del, NC_000011.9:g.65763877_65763878del, NC_000011.9:g.65763878del, NC_000011.9:g.65763878dup, NC_000011.9:g.65763877_65763878dup, NC_000011.9:g.65763872_65763878dup

Select item 14914081222.

rs1491408122 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:65996392 (GRCh38)
11:65763863 (GRCh37)
Canonical SPDI:: NC_000011.10:65996391:CA:
Gene:: EIF1AD (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.65996392_65996393del, NC_000011.9:g.65763863_65763864del

Select item 14913968883.

rs1491396888 has merged into rs397944986 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:66001484 (GRCh38)
11:65768955 (GRCh37)
Canonical SPDI:: NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:66001471:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.66001484_66001492del, NC_000011.10:g.66001486_66001492del, NC_000011.10:g.66001487_66001492del, NC_000011.10:g.66001488_66001492del, NC_000011.10:g.66001489_66001492del, NC_000011.10:g.66001490_66001492del, NC_000011.10:g.66001491_66001492del, NC_000011.10:g.66001492del, NC_000011.10:g.66001492dup, NC_000011.10:g.66001491_66001492dup, NC_000011.10:g.66001490_66001492dup, NC_000011.10:g.66001489_66001492dup, NC_000011.10:g.66001488_66001492dup, NC_000011.10:g.66001487_66001492dup, NC_000011.9:g.65768955_65768963del, NC_000011.9:g.65768957_65768963del, NC_000011.9:g.65768958_65768963del, NC_000011.9:g.65768959_65768963del, NC_000011.9:g.65768960_65768963del, NC_000011.9:g.65768961_65768963del, NC_000011.9:g.65768962_65768963del, NC_000011.9:g.65768963del, NC_000011.9:g.65768963dup, NC_000011.9:g.65768962_65768963dup, NC_000011.9:g.65768961_65768963dup, NC_000011.9:g.65768960_65768963dup, NC_000011.9:g.65768959_65768963dup, NC_000011.9:g.65768958_65768963dup, NG_031874.1:g.4406_4414del, NG_031874.1:g.4408_4414del, NG_031874.1:g.4409_4414del, NG_031874.1:g.4410_4414del, NG_031874.1:g.4411_4414del, NG_031874.1:g.4412_4414del, NG_031874.1:g.4413_4414del, NG_031874.1:g.4414del, NG_031874.1:g.4414dup, NG_031874.1:g.4413_4414dup, NG_031874.1:g.4412_4414dup, NG_031874.1:g.4411_4414dup, NG_031874.1:g.4410_4414dup, NG_031874.1:g.4409_4414dup

Select item 14910173494.

rs1491017349 has merged into rs71837467 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:65997338 (GRCh38)
11:65764809 (GRCh37)
Canonical SPDI:: NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65997326:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EIF1AD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.1192/597 (1000Genomes)
HGVS:: NC_000011.10:g.65997338_65997349del, NC_000011.10:g.65997339_65997349del, NC_000011.10:g.65997340_65997349del, NC_000011.10:g.65997341_65997349del, NC_000011.10:g.65997342_65997349del, NC_000011.10:g.65997343_65997349del, NC_000011.10:g.65997344_65997349del, NC_000011.10:g.65997345_65997349del, NC_000011.10:g.65997346_65997349del, NC_000011.10:g.65997347_65997349del, NC_000011.10:g.65997348_65997349del, NC_000011.10:g.65997349del, NC_000011.10:g.65997349dup, NC_000011.10:g.65997348_65997349dup, NC_000011.10:g.65997347_65997349dup, NC_000011.10:g.65997346_65997349dup, NC_000011.10:g.65997345_65997349dup, NC_000011.10:g.65997344_65997349dup, NC_000011.9:g.65764809_65764820del, NC_000011.9:g.65764810_65764820del, NC_000011.9:g.65764811_65764820del, NC_000011.9:g.65764812_65764820del, NC_000011.9:g.65764813_65764820del, NC_000011.9:g.65764814_65764820del, NC_000011.9:g.65764815_65764820del, NC_000011.9:g.65764816_65764820del, NC_000011.9:g.65764817_65764820del, NC_000011.9:g.65764818_65764820del, NC_000011.9:g.65764819_65764820del, NC_000011.9:g.65764820del, NC_000011.9:g.65764820dup, NC_000011.9:g.65764819_65764820dup, NC_000011.9:g.65764818_65764820dup, NC_000011.9:g.65764817_65764820dup, NC_000011.9:g.65764816_65764820dup, NC_000011.9:g.65764815_65764820dup, NG_031874.1:g.260_271del, NG_031874.1:g.261_271del, NG_031874.1:g.262_271del, NG_031874.1:g.263_271del, NG_031874.1:g.264_271del, NG_031874.1:g.265_271del, NG_031874.1:g.266_271del, NG_031874.1:g.267_271del, NG_031874.1:g.268_271del, NG_031874.1:g.269_271del, NG_031874.1:g.270_271del, NG_031874.1:g.271del, NG_031874.1:g.271dup, NG_031874.1:g.270_271dup, NG_031874.1:g.269_271dup, NG_031874.1:g.268_271dup, NG_031874.1:g.267_271dup, NG_031874.1:g.266_271dup, NM_032325.4:c.*1261_*1272del, NM_032325.4:c.*1262_*1272del, NM_032325.4:c.*1263_*1272del, NM_032325.4:c.*1264_*1272del, NM_032325.4:c.*1265_*1272del, NM_032325.4:c.*1266_*1272del, NM_032325.4:c.*1267_*1272del, NM_032325.4:c.*1268_*1272del, NM_032325.4:c.*1269_*1272del, NM_032325.4:c.*1270_*1272del, NM_032325.4:c.*1271_*1272del, NM_032325.4:c.*1272del, NM_032325.4:c.*1272dup, NM_032325.4:c.*1271_*1272dup, NM_032325.4:c.*1270_*1272dup, NM_032325.4:c.*1269_*1272dup, NM_032325.4:c.*1268_*1272dup, NM_032325.4:c.*1267_*1272dup, NM_032325.3:c.*1261_*1272del, NM_032325.3:c.*1262_*1272del, NM_032325.3:c.*1263_*1272del, NM_032325.3:c.*1264_*1272del, NM_032325.3:c.*1265_*1272del, NM_032325.3:c.*1266_*1272del, NM_032325.3:c.*1267_*1272del, NM_032325.3:c.*1268_*1272del, NM_032325.3:c.*1269_*1272del, NM_032325.3:c.*1270_*1272del, NM_032325.3:c.*1271_*1272del, NM_032325.3:c.*1272del, NM_032325.3:c.*1272dup, NM_032325.3:c.*1271_*1272dup, NM_032325.3:c.*1270_*1272dup, NM_032325.3:c.*1269_*1272dup, NM_032325.3:c.*1268_*1272dup, NM_032325.3:c.*1267_*1272dup, XM_017018412.3:c.*1261_*1272del, XM_017018412.3:c.*1262_*1272del, XM_017018412.3:c.*1263_*1272del, XM_017018412.3:c.*1264_*1272del, XM_017018412.3:c.*1265_*1272del, XM_017018412.3:c.*1266_*1272del, XM_017018412.3:c.*1267_*1272del, XM_017018412.3:c.*1268_*1272del, XM_017018412.3:c.*1269_*1272del, XM_017018412.3:c.*1270_*1272del, XM_017018412.3:c.*1271_*1272del, XM_017018412.3:c.*1272del, XM_017018412.3:c.*1272dup, XM_017018412.3:c.*1271_*1272dup, XM_017018412.3:c.*1270_*1272dup, XM_017018412.3:c.*1269_*1272dup, XM_017018412.3:c.*1268_*1272dup, XM_017018412.3:c.*1267_*1272dup, XM_017018412.1:c.*1261_*1272del, XM_017018412.1:c.*1262_*1272del, XM_017018412.1:c.*1263_*1272del, XM_017018412.1:c.*1264_*1272del, XM_017018412.1:c.*1265_*1272del, XM_017018412.1:c.*1266_*1272del, XM_017018412.1:c.*1267_*1272del, XM_017018412.1:c.*1268_*1272del, XM_017018412.1:c.*1269_*1272del, XM_017018412.1:c.*1270_*1272del, XM_017018412.1:c.*1271_*1272del, XM_017018412.1:c.*1272del, XM_017018412.1:c.*1272dup, XM_017018412.1:c.*1271_*1272dup, XM_017018412.1:c.*1270_*1272dup, XM_017018412.1:c.*1269_*1272dup, XM_017018412.1:c.*1268_*1272dup, XM_017018412.1:c.*1267_*1272dup, NM_001242481.2:c.*1261_*1272del, NM_001242481.2:c.*1262_*1272del, NM_001242481.2:c.*1263_*1272del, NM_001242481.2:c.*1264_*1272del, NM_001242481.2:c.*1265_*1272del, NM_001242481.2:c.*1266_*1272del, NM_001242481.2:c.*1267_*1272del, NM_001242481.2:c.*1268_*1272del, NM_001242481.2:c.*1269_*1272del, NM_001242481.2:c.*1270_*1272del, NM_001242481.2:c.*1271_*1272del, NM_001242481.2:c.*1272del, NM_001242481.2:c.*1272dup, NM_001242481.2:c.*1271_*1272dup, NM_001242481.2:c.*1270_*1272dup, NM_001242481.2:c.*1269_*1272dup, NM_001242481.2:c.*1268_*1272dup, NM_001242481.2:c.*1267_*1272dup, NM_001242481.1:c.*1261_*1272del, NM_001242481.1:c.*1262_*1272del, NM_001242481.1:c.*1263_*1272del, NM_001242481.1:c.*1264_*1272del, NM_001242481.1:c.*1265_*1272del, NM_001242481.1:c.*1266_*1272del, NM_001242481.1:c.*1267_*1272del, NM_001242481.1:c.*1268_*1272del, NM_001242481.1:c.*1269_*1272del, NM_001242481.1:c.*1270_*1272del, NM_001242481.1:c.*1271_*1272del, NM_001242481.1:c.*1272del, NM_001242481.1:c.*1272dup, NM_001242481.1:c.*1271_*1272dup, NM_001242481.1:c.*1270_*1272dup, NM_001242481.1:c.*1269_*1272dup, NM_001242481.1:c.*1268_*1272dup, NM_001242481.1:c.*1267_*1272dup, NM_001242482.2:c.*1261_*1272del, NM_001242482.2:c.*1262_*1272del, NM_001242482.2:c.*1263_*1272del, NM_001242482.2:c.*1264_*1272del, NM_001242482.2:c.*1265_*1272del, NM_001242482.2:c.*1266_*1272del, NM_001242482.2:c.*1267_*1272del, NM_001242482.2:c.*1268_*1272del, NM_001242482.2:c.*1269_*1272del, NM_001242482.2:c.*1270_*1272del, NM_001242482.2:c.*1271_*1272del, NM_001242482.2:c.*1272del, NM_001242482.2:c.*1272dup, NM_001242482.2:c.*1271_*1272dup, NM_001242482.2:c.*1270_*1272dup, NM_001242482.2:c.*1269_*1272dup, NM_001242482.2:c.*1268_*1272dup, NM_001242482.2:c.*1267_*1272dup, NM_001242482.1:c.*1261_*1272del, NM_001242482.1:c.*1262_*1272del, NM_001242482.1:c.*1263_*1272del, NM_001242482.1:c.*1264_*1272del, NM_001242482.1:c.*1265_*1272del, NM_001242482.1:c.*1266_*1272del, NM_001242482.1:c.*1267_*1272del, NM_001242482.1:c.*1268_*1272del, NM_001242482.1:c.*1269_*1272del, NM_001242482.1:c.*1270_*1272del, NM_001242482.1:c.*1271_*1272del, NM_001242482.1:c.*1272del, NM_001242482.1:c.*1272dup, NM_001242482.1:c.*1271_*1272dup, NM_001242482.1:c.*1270_*1272dup, NM_001242482.1:c.*1269_*1272dup, NM_001242482.1:c.*1268_*1272dup, NM_001242482.1:c.*1267_*1272dup, NM_001242483.2:c.*1261_*1272del, NM_001242483.2:c.*1262_*1272del, NM_001242483.2:c.*1263_*1272del, NM_001242483.2:c.*1264_*1272del, NM_001242483.2:c.*1265_*1272del, NM_001242483.2:c.*1266_*1272del, NM_001242483.2:c.*1267_*1272del, NM_001242483.2:c.*1268_*1272del, NM_001242483.2:c.*1269_*1272del, NM_001242483.2:c.*1270_*1272del, NM_001242483.2:c.*1271_*1272del, NM_001242483.2:c.*1272del, NM_001242483.2:c.*1272dup, NM_001242483.2:c.*1271_*1272dup, NM_001242483.2:c.*1270_*1272dup, NM_001242483.2:c.*1269_*1272dup, NM_001242483.2:c.*1268_*1272dup, NM_001242483.2:c.*1267_*1272dup, NM_001242483.1:c.*1261_*1272del, NM_001242483.1:c.*1262_*1272del, NM_001242483.1:c.*1263_*1272del, NM_001242483.1:c.*1264_*1272del, NM_001242483.1:c.*1265_*1272del, NM_001242483.1:c.*1266_*1272del, NM_001242483.1:c.*1267_*1272del, NM_001242483.1:c.*1268_*1272del, NM_001242483.1:c.*1269_*1272del, NM_001242483.1:c.*1270_*1272del, NM_001242483.1:c.*1271_*1272del, NM_001242483.1:c.*1272del, NM_001242483.1:c.*1272dup, NM_001242483.1:c.*1271_*1272dup, NM_001242483.1:c.*1270_*1272dup, NM_001242483.1:c.*1269_*1272dup, NM_001242483.1:c.*1268_*1272dup, NM_001242483.1:c.*1267_*1272dup, NM_001242484.2:c.*1261_*1272del, NM_001242484.2:c.*1262_*1272del, NM_001242484.2:c.*1263_*1272del, NM_001242484.2:c.*1264_*1272del, NM_001242484.2:c.*1265_*1272del, NM_001242484.2:c.*1266_*1272del, NM_001242484.2:c.*1267_*1272del, NM_001242484.2:c.*1268_*1272del, NM_001242484.2:c.*1269_*1272del, NM_001242484.2:c.*1270_*1272del, NM_001242484.2:c.*1271_*1272del, NM_001242484.2:c.*1272del, NM_001242484.2:c.*1272dup, NM_001242484.2:c.*1271_*1272dup, NM_001242484.2:c.*1270_*1272dup, NM_001242484.2:c.*1269_*1272dup, NM_001242484.2:c.*1268_*1272dup, NM_001242484.2:c.*1267_*1272dup, NM_001242484.1:c.*1261_*1272del, NM_001242484.1:c.*1262_*1272del, NM_001242484.1:c.*1263_*1272del, NM_001242484.1:c.*1264_*1272del, NM_001242484.1:c.*1265_*1272del, NM_001242484.1:c.*1266_*1272del, NM_001242484.1:c.*1267_*1272del, NM_001242484.1:c.*1268_*1272del, NM_001242484.1:c.*1269_*1272del, NM_001242484.1:c.*1270_*1272del, NM_001242484.1:c.*1271_*1272del, NM_001242484.1:c.*1272del, NM_001242484.1:c.*1272dup, NM_001242484.1:c.*1271_*1272dup, NM_001242484.1:c.*1270_*1272dup, NM_001242484.1:c.*1269_*1272dup, NM_001242484.1:c.*1268_*1272dup, NM_001242484.1:c.*1267_*1272dup, NM_001242485.2:c.*1261_*1272del, NM_001242485.2:c.*1262_*1272del, NM_001242485.2:c.*1263_*1272del, NM_001242485.2:c.*1264_*1272del, NM_001242485.2:c.*1265_*1272del, NM_001242485.2:c.*1266_*1272del, NM_001242485.2:c.*1267_*1272del, NM_001242485.2:c.*1268_*1272del, NM_001242485.2:c.*1269_*1272del, NM_001242485.2:c.*1270_*1272del, NM_001242485.2:c.*1271_*1272del, NM_001242485.2:c.*1272del, NM_001242485.2:c.*1272dup, NM_001242485.2:c.*1271_*1272dup, NM_001242485.2:c.*1270_*1272dup, NM_001242485.2:c.*1269_*1272dup, NM_001242485.2:c.*1268_*1272dup, NM_001242485.2:c.*1267_*1272dup, NM_001242485.1:c.*1261_*1272del, NM_001242485.1:c.*1262_*1272del, NM_001242485.1:c.*1263_*1272del, NM_001242485.1:c.*1264_*1272del, NM_001242485.1:c.*1265_*1272del, NM_001242485.1:c.*1266_*1272del, NM_001242485.1:c.*1267_*1272del, NM_001242485.1:c.*1268_*1272del, NM_001242485.1:c.*1269_*1272del, NM_001242485.1:c.*1270_*1272del, NM_001242485.1:c.*1271_*1272del, NM_001242485.1:c.*1272del, NM_001242485.1:c.*1272dup, NM_001242485.1:c.*1271_*1272dup, NM_001242485.1:c.*1270_*1272dup, NM_001242485.1:c.*1269_*1272dup, NM_001242485.1:c.*1268_*1272dup, NM_001242485.1:c.*1267_*1272dup, NM_001242486.2:c.*1261_*1272del, NM_001242486.2:c.*1262_*1272del, NM_001242486.2:c.*1263_*1272del, NM_001242486.2:c.*1264_*1272del, NM_001242486.2:c.*1265_*1272del, NM_001242486.2:c.*1266_*1272del, NM_001242486.2:c.*1267_*1272del, NM_001242486.2:c.*1268_*1272del, NM_001242486.2:c.*1269_*1272del, NM_001242486.2:c.*1270_*1272del, NM_001242486.2:c.*1271_*1272del, NM_001242486.2:c.*1272del, NM_001242486.2:c.*1272dup, NM_001242486.2:c.*1271_*1272dup, NM_001242486.2:c.*1270_*1272dup, NM_001242486.2:c.*1269_*1272dup, NM_001242486.2:c.*1268_*1272dup, NM_001242486.2:c.*1267_*1272dup, NM_001242486.1:c.*1261_*1272del, NM_001242486.1:c.*1262_*1272del, NM_001242486.1:c.*1263_*1272del, NM_001242486.1:c.*1264_*1272del, NM_001242486.1:c.*1265_*1272del, NM_001242486.1:c.*1266_*1272del, NM_001242486.1:c.*1267_*1272del, NM_001242486.1:c.*1268_*1272del, NM_001242486.1:c.*1269_*1272del, NM_001242486.1:c.*1270_*1272del, NM_001242486.1:c.*1271_*1272del, NM_001242486.1:c.*1272del, NM_001242486.1:c.*1272dup, NM_001242486.1:c.*1271_*1272dup, NM_001242486.1:c.*1270_*1272dup, NM_001242486.1:c.*1269_*1272dup, NM_001242486.1:c.*1268_*1272dup, NM_001242486.1:c.*1267_*1272dup

Select item 14897816065.

rs1489781606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65998679 (GRCh38)
11:65766150 (GRCh37)
Canonical SPDI:: NC_000011.10:65998678:C:A
Gene:: EIF1AD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65998679C>A, NC_000011.9:g.65766150C>A, NG_031874.1:g.1601C>A, NM_032325.4:c.418G>T, NM_032325.3:c.418G>T, XM_017018412.3:c.418G>T, XM_017018412.2:c.418G>T, XM_017018412.1:c.418G>T, NM_001242481.2:c.418G>T, NM_001242481.1:c.418G>T, NM_001242482.2:c.418G>T, NM_001242482.1:c.418G>T, NM_001242483.2:c.418G>T, NM_001242483.1:c.418G>T, NM_001242484.2:c.418G>T, NM_001242484.1:c.418G>T, NM_001242485.2:c.418G>T, NM_001242485.1:c.418G>T, NM_001242486.2:c.418G>T, NM_001242486.1:c.418G>T, NP_115701.2:p.Asp140Tyr, XP_016873901.1:p.Asp140Tyr, NP_001229410.1:p.Asp140Tyr, NP_001229411.1:p.Asp140Tyr, NP_001229412.1:p.Asp140Tyr, NP_001229413.1:p.Asp140Tyr, NP_001229414.1:p.Asp140Tyr, NP_001229415.1:p.Asp140Tyr

Select item 14896592966.

rs1489659296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65999715 (GRCh38)
11:65767186 (GRCh37)
Canonical SPDI:: NC_000011.10:65999714:G:A
Gene:: EIF1AD (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.65999715G>A, NC_000011.9:g.65767186G>A, NG_031874.1:g.2637G>A

Select item 14895015287.

rs1489501528 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:65997333 (GRCh38)
11:65764805 (GRCh37)
Canonical SPDI:: NC_000011.10:65997333::G
Gene:: EIF1AD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.65997333_65997334insG, NC_000011.9:g.65764804_65764805insG, NG_031874.1:g.255_256insG, NM_032325.4:c.*1265_*1266insC, NM_032325.3:c.*1265_*1266insC, XM_017018412.3:c.*1265_*1266insC, XM_017018412.1:c.*1265_*1266insC, NM_001242481.2:c.*1265_*1266insC, NM_001242481.1:c.*1265_*1266insC, NM_001242482.2:c.*1265_*1266insC, NM_001242482.1:c.*1265_*1266insC, NM_001242483.2:c.*1265_*1266insC, NM_001242483.1:c.*1265_*1266insC, NM_001242484.2:c.*1265_*1266insC, NM_001242484.1:c.*1265_*1266insC, NM_001242485.2:c.*1265_*1266insC, NM_001242485.1:c.*1265_*1266insC, NM_001242486.2:c.*1265_*1266insC, NM_001242486.1:c.*1265_*1266insC

Select item 14886875698.

rs1488687569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65997160 (GRCh38)
11:65764631 (GRCh37)
Canonical SPDI:: NC_000011.10:65997159:T:C
Gene:: EIF1AD (Varview)
Functional Consequence:: 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_000011.10:g.65997160T>C, NC_000011.9:g.65764631T>C, NG_031874.1:g.82T>C, NM_032325.4:c.*1439A>G, NM_032325.3:c.*1439A>G, XM_017018412.3:c.*1439A>G, XM_017018412.1:c.*1439A>G, NM_001242481.2:c.*1439A>G, NM_001242481.1:c.*1439A>G, NM_001242482.2:c.*1439A>G, NM_001242482.1:c.*1439A>G, NM_001242483.2:c.*1439A>G, NM_001242483.1:c.*1439A>G, NM_001242484.2:c.*1439A>G, NM_001242484.1:c.*1439A>G, NM_001242485.2:c.*1439A>G, NM_001242485.1:c.*1439A>G, NM_001242486.2:c.*1439A>G, NM_001242486.1:c.*1439A>G

Select item 14882640799.

rs1488264079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66001459 (GRCh38)
11:65768930 (GRCh37)
Canonical SPDI:: NC_000011.10:66001458:A:G
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66001459A>G, NC_000011.9:g.65768930A>G, NG_031874.1:g.4381A>G

Select item 148791381410.

rs1487913814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66000984 (GRCh38)
11:65768455 (GRCh37)
Canonical SPDI:: NC_000011.10:66000983:G:A
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0016/7 (ALFA)
A=0.0016/7 (Estonian)
HGVS:: NC_000011.10:g.66000984G>A, NC_000011.9:g.65768455G>A, NG_031874.1:g.3906G>A

Select item 148775893711.

rs1487758937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65996786 (GRCh38)
11:65764257 (GRCh37)
Canonical SPDI:: NC_000011.10:65996785:C:T
Gene:: EIF1AD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65996786C>T, NC_000011.9:g.65764257C>T, NM_032325.4:c.*1813G>A, NM_032325.3:c.*1813G>A, XM_017018412.3:c.*1813G>A, XM_017018412.1:c.*1813G>A, NM_001242481.2:c.*1813G>A, NM_001242481.1:c.*1813G>A, NM_001242482.2:c.*1813G>A, NM_001242482.1:c.*1813G>A, NM_001242483.2:c.*1813G>A, NM_001242483.1:c.*1813G>A, NM_001242484.2:c.*1813G>A, NM_001242484.1:c.*1813G>A, NM_001242485.2:c.*1813G>A, NM_001242485.1:c.*1813G>A, NM_001242486.2:c.*1813G>A, NM_001242486.1:c.*1813G>A

Select item 148769680712.

rs1487696807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:65997495 (GRCh38)
11:65764966 (GRCh37)
Canonical SPDI:: NC_000011.10:65997494:C:G,NC_000011.10:65997494:C:T
Gene:: EIF1AD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.65997495C>G, NC_000011.10:g.65997495C>T, NC_000011.9:g.65764966C>G, NC_000011.9:g.65764966C>T, NG_031874.1:g.417C>G, NG_031874.1:g.417C>T, NM_032325.4:c.*1104G>C, NM_032325.4:c.*1104G>A, NM_032325.3:c.*1104G>C, NM_032325.3:c.*1104G>A, XM_017018412.3:c.*1104G>C, XM_017018412.3:c.*1104G>A, XM_017018412.1:c.*1104G>C, XM_017018412.1:c.*1104G>A, NM_001242481.2:c.*1104G>C, NM_001242481.2:c.*1104G>A, NM_001242481.1:c.*1104G>C, NM_001242481.1:c.*1104G>A, NM_001242482.2:c.*1104G>C, NM_001242482.2:c.*1104G>A, NM_001242482.1:c.*1104G>C, NM_001242482.1:c.*1104G>A, NM_001242483.2:c.*1104G>C, NM_001242483.2:c.*1104G>A, NM_001242483.1:c.*1104G>C, NM_001242483.1:c.*1104G>A, NM_001242484.2:c.*1104G>C, NM_001242484.2:c.*1104G>A, NM_001242484.1:c.*1104G>C, NM_001242484.1:c.*1104G>A, NM_001242485.2:c.*1104G>C, NM_001242485.2:c.*1104G>A, NM_001242485.1:c.*1104G>C, NM_001242485.1:c.*1104G>A, NM_001242486.2:c.*1104G>C, NM_001242486.2:c.*1104G>A, NM_001242486.1:c.*1104G>C, NM_001242486.1:c.*1104G>A

Select item 148699530013.

rs1486995300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66000703 (GRCh38)
11:65768174 (GRCh37)
Canonical SPDI:: NC_000011.10:66000702:C:T
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66000703C>T, NC_000011.9:g.65768174C>T, NG_031874.1:g.3625C>T

Select item 148686791314.

rs1486867913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66002114 (GRCh38)
11:65769585 (GRCh37)
Canonical SPDI:: NC_000011.10:66002113:G:A
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.66002114G>A, NC_000011.9:g.65769585G>A, NG_031874.1:g.5036G>A, NM_001143985.1:c.-416G>A, NM_032325.4:c.-292C>T, NM_032325.3:c.-292C>T, XM_017018412.3:c.-402C>T, XM_017018412.2:c.-402C>T, XM_017018412.1:c.-402C>T, NM_003860.3:c.-473G>A, NM_001242481.2:c.-321C>T, NM_001242481.1:c.-321C>T, NM_001242482.2:c.-297C>T, NM_001242482.1:c.-297C>T, NM_001242483.2:c.-222C>T, NM_001242483.1:c.-222C>T, NM_001242484.2:c.-191C>T, NM_001242484.1:c.-191C>T, NM_001242485.2:c.-167C>T, NM_001242485.1:c.-167C>T, NM_001242486.2:c.-92C>T, NM_001242486.1:c.-92C>T

Select item 148683270815.

rs1486832708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66002320 (GRCh38)
11:65769791 (GRCh37)
Canonical SPDI:: NC_000011.10:66002319:C:G
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66002320C>G, NC_000011.9:g.65769791C>G, NG_031874.1:g.5242C>G, NM_001143985.1:c.-210C>G, NM_003860.3:c.-267C>G

Select item 148617366416.

rs1486173664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:65998010 (GRCh38)
11:65765481 (GRCh37)
Canonical SPDI:: NC_000011.10:65998009:T:G
Gene:: EIF1AD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65998010T>G, NC_000011.9:g.65765481T>G, NG_031874.1:g.932T>G, NM_032325.4:c.*589A>C, NM_032325.3:c.*589A>C, XM_017018412.3:c.*589A>C, XM_017018412.1:c.*589A>C, NM_001242481.2:c.*589A>C, NM_001242481.1:c.*589A>C, NM_001242482.2:c.*589A>C, NM_001242482.1:c.*589A>C, NM_001242483.2:c.*589A>C, NM_001242483.1:c.*589A>C, NM_001242484.2:c.*589A>C, NM_001242484.1:c.*589A>C, NM_001242485.2:c.*589A>C, NM_001242485.1:c.*589A>C, NM_001242486.2:c.*589A>C, NM_001242486.1:c.*589A>C

Select item 148604101517.

rs1486041015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:65998958 (GRCh38)
11:65766429 (GRCh37)
Canonical SPDI:: NC_000011.10:65998957:A:C
Gene:: EIF1AD (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)
HGVS:: NC_000011.10:g.65998958A>C, NC_000011.9:g.65766429A>C, NG_031874.1:g.1880A>C

Select item 148601376918.

rs1486013769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:66001502 (GRCh38)
11:65768973 (GRCh37)
Canonical SPDI:: NC_000011.10:66001501:A:C
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66001502A>C, NC_000011.9:g.65768973A>C, NG_031874.1:g.4424A>C

Select item 148588291219.

rs1485882912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:66002405 (GRCh38)
11:65769876 (GRCh37)
Canonical SPDI:: NC_000011.10:66002404:T:G
Gene:: BANF1 (Varview), EIF1AD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66002405T>G, NC_000011.9:g.65769876T>G, NG_031874.1:g.5327T>G, NM_001143985.1:c.-125T>G, NM_003860.3:c.-182T>G

Select item 148541236820.

rs1485412368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:65996423 (GRCh38)
11:65763894 (GRCh37)
Canonical SPDI:: NC_000011.10:65996422:A:C
Gene:: EIF1AD (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65996423A>C, NC_000011.9:g.65763894A>C

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