SNP Links for Gene (Select 84318) - SNP

Links from Gene

Items: 1 to 20 of 13972

<< First< Prev

Page of 699

Next >Last >>

Select item 14915282521.

rs1491528252 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:399176 (GRCh38)
12:508343 (GRCh37)
Canonical SPDI:: NC_000012.12:399176::A
Gene:: CCDC77 (Varview), LOC105369594 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000012.12:g.399176_399177insA, NC_000012.11:g.508342_508343insA

Select item 14915195522.

rs1491519552 [Homo sapiens]

Variant type:: SNV:
Alleles:: AC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915147343.

rs1491514734 has merged into rs34704738 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 12:389111 (GRCh38)
12:498277 (GRCh37)
Canonical SPDI:: NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGG,NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000012.12:389101:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: KDM5A (Varview), CCDC77 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.389111_389116del, NC_000012.12:g.389112_389116del, NC_000012.12:g.389113_389116del, NC_000012.12:g.389114_389116del, NC_000012.12:g.389115_389116del, NC_000012.12:g.389116del, NC_000012.12:g.389116dup, NC_000012.12:g.389115_389116dup, NC_000012.11:g.498277_498282del, NC_000012.11:g.498278_498282del, NC_000012.11:g.498279_498282del, NC_000012.11:g.498280_498282del, NC_000012.11:g.498281_498282del, NC_000012.11:g.498282del, NC_000012.11:g.498282dup, NC_000012.11:g.498281_498282dup, NG_046993.1:g.5349_5354del, NG_046993.1:g.5350_5354del, NG_046993.1:g.5351_5354del, NG_046993.1:g.5352_5354del, NG_046993.1:g.5353_5354del, NG_046993.1:g.5354del, NG_046993.1:g.5354dup, NG_046993.1:g.5353_5354dup, NM_001042603.3:c.-16_-11del, NM_001042603.3:c.-15_-11del, NM_001042603.3:c.-14_-11del, NM_001042603.3:c.-13_-11del, NM_001042603.3:c.-12_-11del, NM_001042603.3:c.-11del, NM_001042603.3:c.-11dup, NM_001042603.3:c.-12_-11dup, NM_001042603.2:c.-16_-11del, NM_001042603.2:c.-15_-11del, NM_001042603.2:c.-14_-11del, NM_001042603.2:c.-13_-11del, NM_001042603.2:c.-12_-11del, NM_001042603.2:c.-11del, NM_001042603.2:c.-11dup, NM_001042603.2:c.-12_-11dup, NM_001042603.1:c.-16_-11del, NM_001042603.1:c.-15_-11del, NM_001042603.1:c.-14_-11del, NM_001042603.1:c.-13_-11del, NM_001042603.1:c.-12_-11del, NM_001042603.1:c.-11del, NM_001042603.1:c.-11dup, NM_001042603.1:c.-12_-11dup, NM_005056.2:c.-16_-11del, NM_005056.2:c.-15_-11del, NM_005056.2:c.-14_-11del, NM_005056.2:c.-13_-11del, NM_005056.2:c.-12_-11del, NM_005056.2:c.-11del, NM_005056.2:c.-11dup, NM_005056.2:c.-12_-11dup, NM_005056.1:c.-13_-11dup, NM_005056.1:c.-13_-11del, NM_005056.1:c.-12_-11del, NM_005056.1:c.-11del, NM_005056.1:c.-11dup, NM_005056.1:c.-12_-11dup, NM_005056.1:c.-14_-11dup, NM_005056.1:c.-15_-11dup

Select item 14914890584.

rs1491489058 has merged into rs765872165 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 12:423477 (GRCh38)
12:532643 (GRCh37)
Canonical SPDI:: NC_000012.12:423475:TGTGT:T,NC_000012.12:423475:TGTGT:TGT
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.00005/1 (TOMMO)
HGVS:: NC_000012.12:g.423477_423480del, NC_000012.12:g.423477GT[1], NC_000012.11:g.532643_532646del, NC_000012.11:g.532643GT[1]

Select item 14914604225.

rs1491460422 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:409832 (GRCh38)
12:518999 (GRCh37)
Canonical SPDI:: NC_000012.12:409832::G
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.409832_409833insG, NC_000012.11:g.518998_518999insG

Select item 14914346196.

rs1491434619 has merged into rs11330348 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:390131 (GRCh38)
12:499297 (GRCh37)
Canonical SPDI:: NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:390120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KDM5A (Varview), CCDC77 (Varview), LOC105369594 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.390131_390144del, NC_000012.12:g.390132_390144del, NC_000012.12:g.390133_390144del, NC_000012.12:g.390135_390144del, NC_000012.12:g.390136_390144del, NC_000012.12:g.390137_390144del, NC_000012.12:g.390138_390144del, NC_000012.12:g.390139_390144del, NC_000012.12:g.390140_390144del, NC_000012.12:g.390141_390144del, NC_000012.12:g.390142_390144del, NC_000012.12:g.390143_390144del, NC_000012.12:g.390144del, NC_000012.12:g.390144dup, NC_000012.12:g.390143_390144dup, NC_000012.12:g.390142_390144dup, NC_000012.12:g.390141_390144dup, NC_000012.12:g.390140_390144dup, NC_000012.12:g.390139_390144dup, NC_000012.12:g.390138_390144dup, NC_000012.12:g.390137_390144dup, NC_000012.12:g.390136_390144dup, NC_000012.12:g.390135_390144dup, NC_000012.12:g.390132_390144dup, NC_000012.12:g.390129_390144dup, NC_000012.12:g.390122_390144dup, NC_000012.12:g.390144_390145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.390144_390145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.499297_499310del, NC_000012.11:g.499298_499310del, NC_000012.11:g.499299_499310del, NC_000012.11:g.499301_499310del, NC_000012.11:g.499302_499310del, NC_000012.11:g.499303_499310del, NC_000012.11:g.499304_499310del, NC_000012.11:g.499305_499310del, NC_000012.11:g.499306_499310del, NC_000012.11:g.499307_499310del, NC_000012.11:g.499308_499310del, NC_000012.11:g.499309_499310del, NC_000012.11:g.499310del, NC_000012.11:g.499310dup, NC_000012.11:g.499309_499310dup, NC_000012.11:g.499308_499310dup, NC_000012.11:g.499307_499310dup, NC_000012.11:g.499306_499310dup, NC_000012.11:g.499305_499310dup, NC_000012.11:g.499304_499310dup, NC_000012.11:g.499303_499310dup, NC_000012.11:g.499302_499310dup, NC_000012.11:g.499301_499310dup, NC_000012.11:g.499298_499310dup, NC_000012.11:g.499295_499310dup, NC_000012.11:g.499288_499310dup, NC_000012.11:g.499310_499311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.499310_499311insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_046993.1:g.4322_4335del, NG_046993.1:g.4323_4335del, NG_046993.1:g.4324_4335del, NG_046993.1:g.4326_4335del, NG_046993.1:g.4327_4335del, NG_046993.1:g.4328_4335del, NG_046993.1:g.4329_4335del, NG_046993.1:g.4330_4335del, NG_046993.1:g.4331_4335del, NG_046993.1:g.4332_4335del, NG_046993.1:g.4333_4335del, NG_046993.1:g.4334_4335del, NG_046993.1:g.4335del, NG_046993.1:g.4335dup, NG_046993.1:g.4334_4335dup, NG_046993.1:g.4333_4335dup, NG_046993.1:g.4332_4335dup, NG_046993.1:g.4331_4335dup, NG_046993.1:g.4330_4335dup, NG_046993.1:g.4329_4335dup, NG_046993.1:g.4328_4335dup, NG_046993.1:g.4327_4335dup, NG_046993.1:g.4326_4335dup, NG_046993.1:g.4323_4335dup, NG_046993.1:g.4320_4335dup, NG_046993.1:g.4313_4335dup, NG_046993.1:g.4335_4336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046993.1:g.4335_4336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XR_007063149.1:n.1178_1191del, XR_007063149.1:n.1179_1191del, XR_007063149.1:n.1180_1191del, XR_007063149.1:n.1182_1191del, XR_007063149.1:n.1183_1191del, XR_007063149.1:n.1184_1191del, XR_007063149.1:n.1185_1191del, XR_007063149.1:n.1186_1191del, XR_007063149.1:n.1187_1191del, XR_007063149.1:n.1188_1191del, XR_007063149.1:n.1189_1191del, XR_007063149.1:n.1190_1191del, XR_007063149.1:n.1191del, XR_007063149.1:n.1191dup, XR_007063149.1:n.1190_1191dup, XR_007063149.1:n.1189_1191dup, XR_007063149.1:n.1188_1191dup, XR_007063149.1:n.1187_1191dup, XR_007063149.1:n.1186_1191dup, XR_007063149.1:n.1185_1191dup, XR_007063149.1:n.1184_1191dup, XR_007063149.1:n.1183_1191dup, XR_007063149.1:n.1182_1191dup, XR_007063149.1:n.1179_1191dup, XR_007063149.1:n.1176_1191dup, XR_007063149.1:n.1169_1191dup, XR_007063149.1:n.1191_1192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XR_007063149.1:n.1191_1192insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913997387.

rs1491399738 has merged into rs753652065 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:392756 (GRCh38)
12:501922 (GRCh37)
Canonical SPDI:: NC_000012.12:392746:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:392746:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:392746:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:392746:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: CCDC77 (Varview), LOC105369594 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.056667/34 (NorthernSweden)
A=0.1/4 (GENOME_DK)
-=0.489141/8198 (TOMMO)
A=0.496179/909 (Korea1K)
HGVS:: NC_000012.12:g.392756_392757del, NC_000012.12:g.392757del, NC_000012.12:g.392757dup, NC_000012.12:g.392756_392757dup, NC_000012.11:g.501922_501923del, NC_000012.11:g.501923del, NC_000012.11:g.501923dup, NC_000012.11:g.501922_501923dup, NG_046993.1:g.1708_1709del, NG_046993.1:g.1709del, NG_046993.1:g.1709dup, NG_046993.1:g.1708_1709dup

Select item 14913977148.

rs1491397714 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:436135 (GRCh38)
12:545302 (GRCh37)
Canonical SPDI:: NC_000012.12:436135:G:GG
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.436136dup, NC_000012.11:g.545302dup

Select item 14913730329.

rs1491373032 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:389100 (GRCh38)
12:498266 (GRCh37)
Canonical SPDI:: NC_000012.12:389099:CC:
Gene:: KDM5A (Varview), CCDC77 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.15/6 (GENOME_DK)
HGVS:: NC_000012.12:g.389100_389101del, NC_000012.11:g.498266_498267del, NG_046993.1:g.5355_5356del, NM_001042603.3:c.-10_-9del, NM_001042603.2:c.-10_-9del, NM_001042603.1:c.-10_-9del, NM_005056.2:c.-10_-9del, NM_005056.1:c.-10_-9del

Select item 149137251210.

rs1491372512 has merged into rs1167006549 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 12:416385 (GRCh38)
12:525551 (GRCh37)
Canonical SPDI:: NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:416377:TATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.416379AT[3], NC_000012.12:g.416379AT[4], NC_000012.12:g.416379AT[5], NC_000012.12:g.416379AT[6], NC_000012.12:g.416379AT[7], NC_000012.12:g.416379AT[8], NC_000012.12:g.416379AT[9], NC_000012.12:g.416379AT[10], NC_000012.12:g.416379AT[11], NC_000012.12:g.416379AT[12], NC_000012.12:g.416379AT[13], NC_000012.12:g.416379AT[14], NC_000012.12:g.416379AT[15], NC_000012.12:g.416379AT[16], NC_000012.12:g.416379AT[17], NC_000012.12:g.416379AT[18], NC_000012.12:g.416379AT[20], NC_000012.12:g.416379AT[21], NC_000012.12:g.416379AT[22], NC_000012.12:g.416379AT[23], NC_000012.12:g.416379AT[24], NC_000012.12:g.416379AT[25], NC_000012.12:g.416379AT[29], NC_000012.12:g.416379AT[30], NC_000012.11:g.525545AT[3], NC_000012.11:g.525545AT[4], NC_000012.11:g.525545AT[5], NC_000012.11:g.525545AT[6], NC_000012.11:g.525545AT[7], NC_000012.11:g.525545AT[8], NC_000012.11:g.525545AT[9], NC_000012.11:g.525545AT[10], NC_000012.11:g.525545AT[11], NC_000012.11:g.525545AT[12], NC_000012.11:g.525545AT[13], NC_000012.11:g.525545AT[14], NC_000012.11:g.525545AT[15], NC_000012.11:g.525545AT[16], NC_000012.11:g.525545AT[17], NC_000012.11:g.525545AT[18], NC_000012.11:g.525545AT[20], NC_000012.11:g.525545AT[21], NC_000012.11:g.525545AT[22], NC_000012.11:g.525545AT[23], NC_000012.11:g.525545AT[24], NC_000012.11:g.525545AT[25], NC_000012.11:g.525545AT[29], NC_000012.11:g.525545AT[30]

Select item 149131493011.

rs1491314930 has merged into rs57102155 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 12:409842 (GRCh38)
12:519008 (GRCh37)
Canonical SPDI:: NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:409831:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.4994/2501 (1000Genomes)
HGVS:: NC_000012.12:g.409842_409848del, NC_000012.12:g.409843_409848del, NC_000012.12:g.409846_409848del, NC_000012.12:g.409847_409848del, NC_000012.12:g.409848del, NC_000012.12:g.409848dup, NC_000012.12:g.409847_409848dup, NC_000012.12:g.409846_409848dup, NC_000012.12:g.409845_409848dup, NC_000012.11:g.519008_519014del, NC_000012.11:g.519009_519014del, NC_000012.11:g.519012_519014del, NC_000012.11:g.519013_519014del, NC_000012.11:g.519014del, NC_000012.11:g.519014dup, NC_000012.11:g.519013_519014dup, NC_000012.11:g.519012_519014dup, NC_000012.11:g.519011_519014dup

Select item 149129544812.

rs1491295448 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:391946 (GRCh38)
12:501112 (GRCh37)
Canonical SPDI:: NC_000012.12:391945:AG:
Gene:: CCDC77 (Varview), LOC105369594 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0./0 (TWINSUK)
-=0.000053/14 (TOPMED)
-=0.000064/9 (GnomAD)
-=0.000259/1 (ALSPAC)
-=0.002004/2 (GoNL)
HGVS:: NC_000012.12:g.391946_391947del, NC_000012.11:g.501112_501113del, NG_046993.1:g.2509_2510del

Select item 149128414713.

rs1491284147 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGGCCTCCTTTCTTGATTTCTGTGTCATTTTTCTTTCACA [Show Flanks]
Chromosome:: 12:413525 (GRCh38)
12:522692 (GRCh37)
Canonical SPDI:: NC_000012.12:413525::TGGCCTCCTTTCTTGATTTCTGTGTCATTTTTCTTTCACA
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TGGCCTCCTTTCTTGATTTCTGTGTCATTTTTCTTTCACA=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.413525_413526insTGGCCTCCTTTCTTGATTTCTGTGTCATTTTTCTTTCACA, NC_000012.11:g.522691_522692insTGGCCTCCTTTCTTGATTTCTGTGTCATTTTTCTTTCACA

Select item 149128129914.

rs1491281299 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:390120 (GRCh38)
12:499286 (GRCh37)
Canonical SPDI:: NC_000012.12:390119:CA:
Gene:: KDM5A (Varview), CCDC77 (Varview), LOC105369594 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.390120_390121del, NC_000012.11:g.499286_499287del, NG_046993.1:g.4335_4336del, XR_007063149.1:n.1191_1192del

Select item 149119131315.

rs1491191313 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:436135 (GRCh38)
12:545301 (GRCh37)
Canonical SPDI:: NC_000012.12:436134:TG:
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.436135_436136del, NC_000012.11:g.545301_545302del

Select item 149116820616.

rs1491168206 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:389116 (GRCh38)
12:498282 (GRCh37)
Canonical SPDI:: NC_000012.12:389115:GT:
Gene:: KDM5A (Varview), CCDC77 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00943/154 (ALFA)
-=0.00442/8 (Korea1K)
-=0.0079/132 (TOMMO)
-=0.01089/599 (ExAC)
HGVS:: NC_000012.12:g.389116_389117del, NC_000012.11:g.498282_498283del, NG_046993.1:g.5339_5340del, NM_001042603.3:c.-26_-25del, NM_001042603.2:c.-26_-25del, NM_001042603.1:c.-26_-25del, NM_005056.2:c.-26_-25del, NM_005056.1:c.-23_-22del

Select item 149115030817.

rs1491150308 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 12:416378 (GRCh38)
12:525545 (GRCh37)
Canonical SPDI:: NC_000012.12:416378:A:ACA
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.416379_416380insCA, NC_000012.11:g.525545_525546insCA

Select item 149113913318.

rs1491139133 has merged into rs36027759 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:399187 (GRCh38)
12:508353 (GRCh37)
Canonical SPDI:: NC_000012.12:399175:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:399175:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:399175:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:399175:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:399175:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:399175:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: CCDC77 (Varview), LOC105369594 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.399187_399188del, NC_000012.12:g.399188del, NC_000012.12:g.399188dup, NC_000012.12:g.399187_399188dup, NC_000012.12:g.399186_399188dup, NC_000012.12:g.399185_399188dup, NC_000012.11:g.508353_508354del, NC_000012.11:g.508354del, NC_000012.11:g.508354dup, NC_000012.11:g.508353_508354dup, NC_000012.11:g.508352_508354dup, NC_000012.11:g.508351_508354dup

Select item 149111698219.

rs1491116982 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 12:389101 (GRCh38)
12:498267 (GRCh37)
Canonical SPDI:: NC_000012.12:389100:CG:
Gene:: KDM5A (Varview), CCDC77 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.389101_389102del, NC_000012.11:g.498267_498268del, NG_046993.1:g.5354_5355del, NM_001042603.3:c.-11_-10del, NM_001042603.2:c.-11_-10del, NM_001042603.1:c.-11_-10del, NM_005056.2:c.-11_-10del, NM_005056.1:c.-11dup, NM_005056.1:c.-9del

Select item 149110536920.

rs1491105369 has merged into rs143059491 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:431212 (GRCh38)
12:540378 (GRCh37)
Canonical SPDI:: NC_000012.12:431210:TCT:T
Gene:: CCDC77 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.25746/3054 (ALFA)
-=0.12694/229 (Korea1K)
-=0.14124/2329 (TOMMO)
-=0.41856/32175 (GnomAD)
HGVS:: NC_000012.12:g.431212_431213del, NC_000012.11:g.540378_540379del

<< First< Prev

Page of 699

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 13972

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity