SNP Links for Gene (Select 57379) - SNP

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Select item 14915827141.

rs1491582714 has merged into rs762276335 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:8603147 (GRCh38)
12:8755743 (GRCh37)
Canonical SPDI:: NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:8603141:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AICDA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.8603147_8603161del, NC_000012.12:g.8603150_8603161del, NC_000012.12:g.8603151_8603161del, NC_000012.12:g.8603153_8603161del, NC_000012.12:g.8603154_8603161del, NC_000012.12:g.8603155_8603161del, NC_000012.12:g.8603156_8603161del, NC_000012.12:g.8603157_8603161del, NC_000012.12:g.8603158_8603161del, NC_000012.12:g.8603159_8603161del, NC_000012.12:g.8603160_8603161del, NC_000012.12:g.8603161del, NC_000012.12:g.8603161dup, NC_000012.12:g.8603160_8603161dup, NC_000012.12:g.8603159_8603161dup, NC_000012.12:g.8603158_8603161dup, NC_000012.12:g.8603157_8603161dup, NC_000012.12:g.8603156_8603161dup, NC_000012.12:g.8603155_8603161dup, NC_000012.12:g.8603154_8603161dup, NC_000012.12:g.8603153_8603161dup, NC_000012.11:g.8755743_8755757del, NC_000012.11:g.8755746_8755757del, NC_000012.11:g.8755747_8755757del, NC_000012.11:g.8755749_8755757del, NC_000012.11:g.8755750_8755757del, NC_000012.11:g.8755751_8755757del, NC_000012.11:g.8755752_8755757del, NC_000012.11:g.8755753_8755757del, NC_000012.11:g.8755754_8755757del, NC_000012.11:g.8755755_8755757del, NC_000012.11:g.8755756_8755757del, NC_000012.11:g.8755757del, NC_000012.11:g.8755757dup, NC_000012.11:g.8755756_8755757dup, NC_000012.11:g.8755755_8755757dup, NC_000012.11:g.8755754_8755757dup, NC_000012.11:g.8755753_8755757dup, NC_000012.11:g.8755752_8755757dup, NC_000012.11:g.8755751_8755757dup, NC_000012.11:g.8755750_8755757dup, NC_000012.11:g.8755749_8755757dup, NG_011588.1:g.14691_14705del, NG_011588.1:g.14694_14705del, NG_011588.1:g.14695_14705del, NG_011588.1:g.14697_14705del, NG_011588.1:g.14698_14705del, NG_011588.1:g.14699_14705del, NG_011588.1:g.14700_14705del, NG_011588.1:g.14701_14705del, NG_011588.1:g.14702_14705del, NG_011588.1:g.14703_14705del, NG_011588.1:g.14704_14705del, NG_011588.1:g.14705del, NG_011588.1:g.14705dup, NG_011588.1:g.14704_14705dup, NG_011588.1:g.14703_14705dup, NG_011588.1:g.14702_14705dup, NG_011588.1:g.14701_14705dup, NG_011588.1:g.14700_14705dup, NG_011588.1:g.14699_14705dup, NG_011588.1:g.14698_14705dup, NG_011588.1:g.14697_14705dup, NM_020661.4:c.*1128_*1142del, NM_020661.4:c.*1131_*1142del, NM_020661.4:c.*1132_*1142del, NM_020661.4:c.*1134_*1142del, NM_020661.4:c.*1135_*1142del, NM_020661.4:c.*1136_*1142del, NM_020661.4:c.*1137_*1142del, NM_020661.4:c.*1138_*1142del, NM_020661.4:c.*1139_*1142del, NM_020661.4:c.*1140_*1142del, NM_020661.4:c.*1141_*1142del, NM_020661.4:c.*1142del, NM_020661.4:c.*1142dup, NM_020661.4:c.*1141_*1142dup, NM_020661.4:c.*1140_*1142dup, NM_020661.4:c.*1139_*1142dup, NM_020661.4:c.*1138_*1142dup, NM_020661.4:c.*1137_*1142dup, NM_020661.4:c.*1136_*1142dup, NM_020661.4:c.*1135_*1142dup, NM_020661.4:c.*1134_*1142dup, NM_020661.3:c.*1128_*1142del, NM_020661.3:c.*1131_*1142del, NM_020661.3:c.*1132_*1142del, NM_020661.3:c.*1134_*1142del, NM_020661.3:c.*1135_*1142del, NM_020661.3:c.*1136_*1142del, NM_020661.3:c.*1137_*1142del, NM_020661.3:c.*1138_*1142del, NM_020661.3:c.*1139_*1142del, NM_020661.3:c.*1140_*1142del, NM_020661.3:c.*1141_*1142del, NM_020661.3:c.*1142del, NM_020661.3:c.*1142dup, NM_020661.3:c.*1141_*1142dup, NM_020661.3:c.*1140_*1142dup, NM_020661.3:c.*1139_*1142dup, NM_020661.3:c.*1138_*1142dup, NM_020661.3:c.*1137_*1142dup, NM_020661.3:c.*1136_*1142dup, NM_020661.3:c.*1135_*1142dup, NM_020661.3:c.*1134_*1142dup, NM_020661.2:c.*1128_*1142del, NM_020661.2:c.*1131_*1142del, NM_020661.2:c.*1132_*1142del, NM_020661.2:c.*1134_*1142del, NM_020661.2:c.*1135_*1142del, NM_020661.2:c.*1136_*1142del, NM_020661.2:c.*1137_*1142del, NM_020661.2:c.*1138_*1142del, NM_020661.2:c.*1139_*1142del, NM_020661.2:c.*1140_*1142del, NM_020661.2:c.*1141_*1142del, NM_020661.2:c.*1142del, NM_020661.2:c.*1142dup, NM_020661.2:c.*1141_*1142dup, NM_020661.2:c.*1140_*1142dup, NM_020661.2:c.*1139_*1142dup, NM_020661.2:c.*1138_*1142dup, NM_020661.2:c.*1137_*1142dup, NM_020661.2:c.*1136_*1142dup, NM_020661.2:c.*1135_*1142dup, NM_020661.2:c.*1134_*1142dup, NM_001330343.2:c.*1128_*1142del, NM_001330343.2:c.*1131_*1142del, NM_001330343.2:c.*1132_*1142del, NM_001330343.2:c.*1134_*1142del, NM_001330343.2:c.*1135_*1142del, NM_001330343.2:c.*1136_*1142del, NM_001330343.2:c.*1137_*1142del, NM_001330343.2:c.*1138_*1142del, NM_001330343.2:c.*1139_*1142del, NM_001330343.2:c.*1140_*1142del, NM_001330343.2:c.*1141_*1142del, NM_001330343.2:c.*1142del, NM_001330343.2:c.*1142dup, NM_001330343.2:c.*1141_*1142dup, NM_001330343.2:c.*1140_*1142dup, NM_001330343.2:c.*1139_*1142dup, NM_001330343.2:c.*1138_*1142dup, NM_001330343.2:c.*1137_*1142dup, NM_001330343.2:c.*1136_*1142dup, NM_001330343.2:c.*1135_*1142dup, NM_001330343.2:c.*1134_*1142dup, NM_001330343.1:c.*1128_*1142del, NM_001330343.1:c.*1131_*1142del, NM_001330343.1:c.*1132_*1142del, NM_001330343.1:c.*1134_*1142del, NM_001330343.1:c.*1135_*1142del, NM_001330343.1:c.*1136_*1142del, NM_001330343.1:c.*1137_*1142del, NM_001330343.1:c.*1138_*1142del, NM_001330343.1:c.*1139_*1142del, NM_001330343.1:c.*1140_*1142del, NM_001330343.1:c.*1141_*1142del, NM_001330343.1:c.*1142del, NM_001330343.1:c.*1142dup, NM_001330343.1:c.*1141_*1142dup, NM_001330343.1:c.*1140_*1142dup, NM_001330343.1:c.*1139_*1142dup, NM_001330343.1:c.*1138_*1142dup, NM_001330343.1:c.*1137_*1142dup, NM_001330343.1:c.*1136_*1142dup, NM_001330343.1:c.*1135_*1142dup, NM_001330343.1:c.*1134_*1142dup, XM_011520773.3:c.*1171_*1185del, XM_011520773.3:c.*1174_*1185del, XM_011520773.3:c.*1175_*1185del, XM_011520773.3:c.*1177_*1185del, XM_011520773.3:c.*1178_*1185del, XM_011520773.3:c.*1179_*1185del, XM_011520773.3:c.*1180_*1185del, XM_011520773.3:c.*1181_*1185del, XM_011520773.3:c.*1182_*1185del, XM_011520773.3:c.*1183_*1185del, XM_011520773.3:c.*1184_*1185del, XM_011520773.3:c.*1185del, XM_011520773.3:c.*1185dup, XM_011520773.3:c.*1184_*1185dup, XM_011520773.3:c.*1183_*1185dup, XM_011520773.3:c.*1182_*1185dup, XM_011520773.3:c.*1181_*1185dup, XM_011520773.3:c.*1180_*1185dup, XM_011520773.3:c.*1179_*1185dup, XM_011520773.3:c.*1178_*1185dup, XM_011520773.3:c.*1177_*1185dup, NM_001410970.1:c.*1171_*1185del, NM_001410970.1:c.*1174_*1185del, NM_001410970.1:c.*1175_*1185del, NM_001410970.1:c.*1177_*1185del, NM_001410970.1:c.*1178_*1185del, NM_001410970.1:c.*1179_*1185del, NM_001410970.1:c.*1180_*1185del, NM_001410970.1:c.*1181_*1185del, NM_001410970.1:c.*1182_*1185del, NM_001410970.1:c.*1183_*1185del, NM_001410970.1:c.*1184_*1185del, NM_001410970.1:c.*1185del, NM_001410970.1:c.*1185dup, NM_001410970.1:c.*1184_*1185dup, NM_001410970.1:c.*1183_*1185dup, NM_001410970.1:c.*1182_*1185dup, NM_001410970.1:c.*1181_*1185dup, NM_001410970.1:c.*1180_*1185dup, NM_001410970.1:c.*1179_*1185dup, NM_001410970.1:c.*1178_*1185dup, NM_001410970.1:c.*1177_*1185dup

Select item 14915137732.

rs1491513773 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:8603142 (GRCh38)
12:8755739 (GRCh37)
Canonical SPDI:: NC_000012.12:8603142::C
Gene:: AICDA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000017/1 (GnomAD)
HGVS:: NC_000012.12:g.8603142_8603143insC, NC_000012.11:g.8755738_8755739insC, NG_011588.1:g.14704_14705insG, NM_020661.4:c.*1141_*1142insG, NM_020661.3:c.*1141_*1142insG, NM_020661.2:c.*1141_*1142insG, NM_001330343.2:c.*1141_*1142insG, NM_001330343.1:c.*1141_*1142insG, XM_011520773.3:c.*1184_*1185insG, NM_001410970.1:c.*1184_*1185insG

Select item 14914787593.

rs1491478759 has merged into rs374498877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:8604506 (GRCh38)
12:8757102 (GRCh37)
Canonical SPDI:: NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:8604496:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.8604506_8604523del, NC_000012.12:g.8604508_8604523del, NC_000012.12:g.8604509_8604523del, NC_000012.12:g.8604510_8604523del, NC_000012.12:g.8604511_8604523del, NC_000012.12:g.8604512_8604523del, NC_000012.12:g.8604513_8604523del, NC_000012.12:g.8604514_8604523del, NC_000012.12:g.8604515_8604523del, NC_000012.12:g.8604516_8604523del, NC_000012.12:g.8604517_8604523del, NC_000012.12:g.8604518_8604523del, NC_000012.12:g.8604519_8604523del, NC_000012.12:g.8604520_8604523del, NC_000012.12:g.8604521_8604523del, NC_000012.12:g.8604522_8604523del, NC_000012.12:g.8604523del, NC_000012.12:g.8604523dup, NC_000012.12:g.8604522_8604523dup, NC_000012.12:g.8604521_8604523dup, NC_000012.12:g.8604520_8604523dup, NC_000012.12:g.8604519_8604523dup, NC_000012.12:g.8604518_8604523dup, NC_000012.12:g.8604517_8604523dup, NC_000012.12:g.8604516_8604523dup, NC_000012.12:g.8604515_8604523dup, NC_000012.12:g.8604514_8604523dup, NC_000012.12:g.8604513_8604523dup, NC_000012.12:g.8604512_8604523dup, NC_000012.12:g.8604511_8604523dup, NC_000012.11:g.8757102_8757119del, NC_000012.11:g.8757104_8757119del, NC_000012.11:g.8757105_8757119del, NC_000012.11:g.8757106_8757119del, NC_000012.11:g.8757107_8757119del, NC_000012.11:g.8757108_8757119del, NC_000012.11:g.8757109_8757119del, NC_000012.11:g.8757110_8757119del, NC_000012.11:g.8757111_8757119del, NC_000012.11:g.8757112_8757119del, NC_000012.11:g.8757113_8757119del, NC_000012.11:g.8757114_8757119del, NC_000012.11:g.8757115_8757119del, NC_000012.11:g.8757116_8757119del, NC_000012.11:g.8757117_8757119del, NC_000012.11:g.8757118_8757119del, NC_000012.11:g.8757119del, NC_000012.11:g.8757119dup, NC_000012.11:g.8757118_8757119dup, NC_000012.11:g.8757117_8757119dup, NC_000012.11:g.8757116_8757119dup, NC_000012.11:g.8757115_8757119dup, NC_000012.11:g.8757114_8757119dup, NC_000012.11:g.8757113_8757119dup, NC_000012.11:g.8757112_8757119dup, NC_000012.11:g.8757111_8757119dup, NC_000012.11:g.8757110_8757119dup, NC_000012.11:g.8757109_8757119dup, NC_000012.11:g.8757108_8757119dup, NC_000012.11:g.8757107_8757119dup, NG_011588.1:g.13333_13350del, NG_011588.1:g.13335_13350del, NG_011588.1:g.13336_13350del, NG_011588.1:g.13337_13350del, NG_011588.1:g.13338_13350del, NG_011588.1:g.13339_13350del, NG_011588.1:g.13340_13350del, NG_011588.1:g.13341_13350del, NG_011588.1:g.13342_13350del, NG_011588.1:g.13343_13350del, NG_011588.1:g.13344_13350del, NG_011588.1:g.13345_13350del, NG_011588.1:g.13346_13350del, NG_011588.1:g.13347_13350del, NG_011588.1:g.13348_13350del, NG_011588.1:g.13349_13350del, NG_011588.1:g.13350del, NG_011588.1:g.13350dup, NG_011588.1:g.13349_13350dup, NG_011588.1:g.13348_13350dup, NG_011588.1:g.13347_13350dup, NG_011588.1:g.13346_13350dup, NG_011588.1:g.13345_13350dup, NG_011588.1:g.13344_13350dup, NG_011588.1:g.13343_13350dup, NG_011588.1:g.13342_13350dup, NG_011588.1:g.13341_13350dup, NG_011588.1:g.13340_13350dup, NG_011588.1:g.13339_13350dup, NG_011588.1:g.13338_13350dup

Select item 14914398124.

rs1491439812 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 12:8604925 (GRCh38)
12:8757521 (GRCh37)
Canonical SPDI:: NC_000012.12:8604924:TC:
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.8604925_8604926del, NC_000012.11:g.8757521_8757522del, NG_011588.1:g.12921_12922del

Select item 14914204655.

rs1491420465 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:8604496 (GRCh38)
12:8757092 (GRCh37)
Canonical SPDI:: NC_000012.12:8604495:TA:
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.8604496_8604497del, NC_000012.11:g.8757092_8757093del, NG_011588.1:g.13350_13351del

Select item 14913316486.

rs1491331648 has merged into rs1343748238 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:8602839 (GRCh38)
12:8755435 (GRCh37)
Canonical SPDI:: NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:8602829:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: AICDA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.8602839_8602845del, NC_000012.12:g.8602842_8602845del, NC_000012.12:g.8602843_8602845del, NC_000012.12:g.8602844_8602845del, NC_000012.12:g.8602845del, NC_000012.12:g.8602845dup, NC_000012.12:g.8602844_8602845dup, NC_000012.12:g.8602843_8602845dup, NC_000012.11:g.8755435_8755441del, NC_000012.11:g.8755438_8755441del, NC_000012.11:g.8755439_8755441del, NC_000012.11:g.8755440_8755441del, NC_000012.11:g.8755441del, NC_000012.11:g.8755441dup, NC_000012.11:g.8755440_8755441dup, NC_000012.11:g.8755439_8755441dup, NG_011588.1:g.15011_15017del, NG_011588.1:g.15014_15017del, NG_011588.1:g.15015_15017del, NG_011588.1:g.15016_15017del, NG_011588.1:g.15017del, NG_011588.1:g.15017dup, NG_011588.1:g.15016_15017dup, NG_011588.1:g.15015_15017dup, NM_020661.4:c.*1448_*1454del, NM_020661.4:c.*1451_*1454del, NM_020661.4:c.*1452_*1454del, NM_020661.4:c.*1453_*1454del, NM_020661.4:c.*1454del, NM_020661.4:c.*1454dup, NM_020661.4:c.*1453_*1454dup, NM_020661.4:c.*1452_*1454dup, NM_020661.3:c.*1448_*1454del, NM_020661.3:c.*1451_*1454del, NM_020661.3:c.*1452_*1454del, NM_020661.3:c.*1453_*1454del, NM_020661.3:c.*1454del, NM_020661.3:c.*1454dup, NM_020661.3:c.*1453_*1454dup, NM_020661.3:c.*1452_*1454dup, NM_020661.2:c.*1448_*1454del, NM_020661.2:c.*1451_*1454del, NM_020661.2:c.*1452_*1454del, NM_020661.2:c.*1453_*1454del, NM_020661.2:c.*1454del, NM_020661.2:c.*1454dup, NM_020661.2:c.*1453_*1454dup, NM_020661.2:c.*1452_*1454dup, NM_001330343.2:c.*1448_*1454del, NM_001330343.2:c.*1451_*1454del, NM_001330343.2:c.*1452_*1454del, NM_001330343.2:c.*1453_*1454del, NM_001330343.2:c.*1454del, NM_001330343.2:c.*1454dup, NM_001330343.2:c.*1453_*1454dup, NM_001330343.2:c.*1452_*1454dup, NM_001330343.1:c.*1448_*1454del, NM_001330343.1:c.*1451_*1454del, NM_001330343.1:c.*1452_*1454del, NM_001330343.1:c.*1453_*1454del, NM_001330343.1:c.*1454del, NM_001330343.1:c.*1454dup, NM_001330343.1:c.*1453_*1454dup, NM_001330343.1:c.*1452_*1454dup, XM_011520773.3:c.*1491_*1497del, XM_011520773.3:c.*1494_*1497del, XM_011520773.3:c.*1495_*1497del, XM_011520773.3:c.*1496_*1497del, XM_011520773.3:c.*1497del, XM_011520773.3:c.*1497dup, XM_011520773.3:c.*1496_*1497dup, XM_011520773.3:c.*1495_*1497dup, NM_001410970.1:c.*1491_*1497del, NM_001410970.1:c.*1494_*1497del, NM_001410970.1:c.*1495_*1497del, NM_001410970.1:c.*1496_*1497del, NM_001410970.1:c.*1497del, NM_001410970.1:c.*1497dup, NM_001410970.1:c.*1496_*1497dup, NM_001410970.1:c.*1495_*1497dup

Select item 14912933707.

rs1491293370 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 12:8611039 (GRCh38)
12:8763635 (GRCh37)
Canonical SPDI:: NC_000012.12:8611038:GG:
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001096/13 (ALFA)
-=0.001296/153 (GnomAD)
-=0.016921/31 (Korea1K)
-=0.019452/326 (TOMMO)
HGVS:: NC_000012.12:g.8611039_8611040del, NC_000012.11:g.8763635_8763636del, NG_011588.1:g.6807_6808del

Select item 14911396918.

rs1491139691 has merged into rs5796316 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:8604932 (GRCh38)
12:8757528 (GRCh37)
Canonical SPDI:: NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:8604926:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.3576/1791 (1000Genomes)
HGVS:: NC_000012.12:g.8604932_8604939del, NC_000012.12:g.8604933_8604939del, NC_000012.12:g.8604934_8604939del, NC_000012.12:g.8604937_8604939del, NC_000012.12:g.8604938_8604939del, NC_000012.12:g.8604939del, NC_000012.12:g.8604939dup, NC_000012.12:g.8604938_8604939dup, NC_000012.12:g.8604937_8604939dup, NC_000012.12:g.8604936_8604939dup, NC_000012.11:g.8757528_8757535del, NC_000012.11:g.8757529_8757535del, NC_000012.11:g.8757530_8757535del, NC_000012.11:g.8757533_8757535del, NC_000012.11:g.8757534_8757535del, NC_000012.11:g.8757535del, NC_000012.11:g.8757535dup, NC_000012.11:g.8757534_8757535dup, NC_000012.11:g.8757533_8757535dup, NC_000012.11:g.8757532_8757535dup, NG_011588.1:g.12913_12920del, NG_011588.1:g.12914_12920del, NG_011588.1:g.12915_12920del, NG_011588.1:g.12918_12920del, NG_011588.1:g.12919_12920del, NG_011588.1:g.12920del, NG_011588.1:g.12920dup, NG_011588.1:g.12919_12920dup, NG_011588.1:g.12918_12920dup, NG_011588.1:g.12917_12920dup

Select item 14907911769.

rs1490791176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8608058 (GRCh38)
12:8760654 (GRCh37)
Canonical SPDI:: NC_000012.12:8608057:G:A
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.8608058G>A, NC_000012.11:g.8760654G>A, NG_011588.1:g.9789C>T

Select item 149078337110.

rs1490783371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:8602206 (GRCh38)
12:8754802 (GRCh37)
Canonical SPDI:: NC_000012.12:8602205:T:A
Gene:: AICDA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000045/12 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.8602206T>A, NC_000012.11:g.8754802T>A, NG_011588.1:g.15641A>T, NM_020661.4:c.*2078A>T, NM_020661.3:c.*2078A>T, NM_020661.2:c.*2078A>T, NM_001330343.2:c.*2078A>T, NM_001330343.1:c.*2078A>T, XM_011520773.3:c.*2121A>T, NM_001410970.1:c.*2121A>T

Select item 149032176511.

rs1490321765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8603170 (GRCh38)
12:8755766 (GRCh37)
Canonical SPDI:: NC_000012.12:8603169:G:A
Gene:: AICDA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000012.12:g.8603170G>A, NC_000012.11:g.8755766G>A, NG_011588.1:g.14677C>T, NM_020661.4:c.*1114C>T, NM_020661.3:c.*1114C>T, NM_020661.2:c.*1114C>T, NM_001330343.2:c.*1114C>T, NM_001330343.1:c.*1114C>T, XM_011520773.3:c.*1157C>T, NM_001410970.1:c.*1157C>T

Select item 149024822512.

rs1490248225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8602431 (GRCh38)
12:8755027 (GRCh37)
Canonical SPDI:: NC_000012.12:8602430:G:T
Gene:: AICDA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.8602431G>T, NC_000012.11:g.8755027G>T, NG_011588.1:g.15416C>A, NM_020661.4:c.*1853C>A, NM_020661.3:c.*1853C>A, NM_020661.2:c.*1853C>A, NM_001330343.2:c.*1853C>A, NM_001330343.1:c.*1853C>A, XM_011520773.3:c.*1896C>A, NM_001410970.1:c.*1896C>A

Select item 149017677213.

rs1490176772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8606917 (GRCh38)
12:8759513 (GRCh37)
Canonical SPDI:: NC_000012.12:8606916:C:T
Gene:: AICDA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8606917C>T, NC_000012.11:g.8759513C>T, NG_011588.1:g.10930G>A, NM_020661.4:c.104G>A, NM_020661.3:c.104G>A, NM_020661.2:c.104G>A, NM_001330343.2:c.104G>A, NM_001330343.1:c.104G>A, XM_011520773.3:c.104G>A, NM_001410970.1:c.104G>A, NP_065712.1:p.Arg35Lys, NP_001317272.1:p.Arg35Lys, XP_011519075.1:p.Arg35Lys

Select item 148972327514.

rs1489723275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:8601873 (GRCh38)
12:8754469 (GRCh37)
Canonical SPDI:: NC_000012.12:8601872:T:G
Gene:: AICDA (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8601873T>G, NC_000012.11:g.8754469T>G, NG_011588.1:g.15974A>C

Select item 148968716115.

rs1489687161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:8605310 (GRCh38)
12:8757906 (GRCh37)
Canonical SPDI:: NC_000012.12:8605309:G:A,NC_000012.12:8605309:G:T
Gene:: AICDA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8605310G>A, NC_000012.12:g.8605310G>T, NC_000012.11:g.8757906G>A, NC_000012.11:g.8757906G>T, NG_011588.1:g.12537C>T, NG_011588.1:g.12537C>A, NM_020661.4:c.332C>T, NM_020661.4:c.332C>A, NM_020661.3:c.332C>T, NM_020661.3:c.332C>A, NM_020661.2:c.332C>T, NM_020661.2:c.332C>A, NM_001330343.2:c.332C>T, NM_001330343.2:c.332C>A, NM_001330343.1:c.332C>T, NM_001330343.1:c.332C>A, XM_011520773.3:c.332C>T, XM_011520773.3:c.332C>A, NM_001410970.1:c.332C>T, NM_001410970.1:c.332C>A, NP_065712.1:p.Ala111Val, NP_065712.1:p.Ala111Glu, NP_001317272.1:p.Ala111Val, NP_001317272.1:p.Ala111Glu, XP_011519075.1:p.Ala111Val, XP_011519075.1:p.Ala111Glu

Select item 148948983816.

rs1489489838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:8611018 (GRCh38)
12:8763614 (GRCh37)
Canonical SPDI:: NC_000012.12:8611017:T:C
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.8611018T>C, NC_000012.11:g.8763614T>C, NG_011588.1:g.6829A>G

Select item 148938958517.

rs1489389585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8613979 (GRCh38)
12:8766575 (GRCh37)
Canonical SPDI:: NC_000012.12:8613978:A:G
Gene:: AICDA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.8613979A>G, NC_000012.11:g.8766575A>G, NG_011588.1:g.3868T>C

Select item 148925015318.

rs1489250153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:8604468 (GRCh38)
12:8757065 (GRCh37)
Canonical SPDI:: NC_000012.12:8604468:TTTTTTT:TTTTTTTT
Gene:: AICDA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000123/2 (ALFA)
T=0.000018/2 (GnomAD)
T=0.000224/1 (Estonian)
HGVS:: NC_000012.12:g.8604475dup, NC_000012.11:g.8757071dup, NG_011588.1:g.13378dup

Select item 148908621819.

rs1489086218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:8612929 (GRCh38)
12:8765525 (GRCh37)
Canonical SPDI:: NC_000012.12:8612928:C:A,NC_000012.12:8612928:C:G,NC_000012.12:8612928:C:T
Gene:: AICDA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.8612929C>A, NC_000012.12:g.8612929C>G, NC_000012.12:g.8612929C>T, NC_000012.11:g.8765525C>A, NC_000012.11:g.8765525C>G, NC_000012.11:g.8765525C>T, NG_011588.1:g.4918G>T, NG_011588.1:g.4918G>C, NG_011588.1:g.4918G>A

Select item 148892637820.

rs1488926378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8606630 (GRCh38)
12:8759226 (GRCh37)
Canonical SPDI:: NC_000012.12:8606629:A:G
Gene:: AICDA (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_000012.12:g.8606630A>G, NC_000012.11:g.8759226A>G, NG_011588.1:g.11217T>C

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