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Select item 14915593641.

rs1491559364 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 9:121002262 (GRCh38)
9:123764540 (GRCh37)
Canonical SPDI:: NC_000009.12:121002260:TGT:T,NC_000009.12:121002260:TGT:TGTGT
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.0001/9 (GnomAD)
-=0.00011/2 (TOMMO)
-=0.00116/2 (Korea1K)
-=0.00333/2 (NorthernSweden)
HGVS:: NC_000009.12:g.121002262_121002263del, NC_000009.12:g.121002262_121002263dup, NC_000009.11:g.123764540_123764541del, NC_000009.11:g.123764540_123764541dup, NG_007364.1:g.53015_53016del, NG_007364.1:g.53015_53016dup

Select item 14915297722.

rs1491529772 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 9:121033013 (GRCh38)
9:123795291 (GRCh37)
Canonical SPDI:: NC_000009.12:121033011:GGG:G
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.02487/295 (ALFA)
-=0.00902/65 (TOMMO)
-=0.06282/49 (Korea1K)
-=0.13362/4138 (GnomAD)
-=0.35755/1378 (ALSPAC)
-=0.36812/1365 (TWINSUK)
HGVS:: NC_000009.12:g.121033013_121033014del, NC_000009.11:g.123795291_123795292del, NG_007364.1:g.22264_22265del

Select item 14915067653.

rs1491506765 has merged into rs201849062 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTGTTTTTTTTTTTTTTTTT,TTTT,TTTTGATTTTTTTTTTTTTTTT,TTTTGTTTTTTTTTTTTTTTTT,TTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:121037316 (GRCh38)
9:123799594 (GRCh37)
Canonical SPDI:: NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGATTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121037302:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
-=0.32089/1607 (1000Genomes)
HGVS:: NC_000009.12:g.121037316_121037318del, NC_000009.12:g.121037317_121037318del, NC_000009.12:g.121037318del, NC_000009.12:g.121037303_121037318T[16]GTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.121037318dup, NC_000009.12:g.121037303_121037318T[17]GATTTTTTTTTTTTTTTT[1], NC_000009.12:g.121037303_121037318T[17]GTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.121037317_121037318dup, NC_000009.12:g.121037306_121037318dup, NC_000009.12:g.121037305_121037318dup, NC_000009.12:g.121037304_121037318dup, NC_000009.12:g.121037303_121037318dup, NC_000009.12:g.121037318_121037319insTTTTTTTTTTTTTTTTT, NC_000009.12:g.121037318_121037319insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.121037303_121037318T[36]GTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.123799594_123799596del, NC_000009.11:g.123799595_123799596del, NC_000009.11:g.123799596del, NC_000009.11:g.123799581_123799596T[16]GTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.123799596dup, NC_000009.11:g.123799581_123799596T[17]GATTTTTTTTTTTTTTTT[1], NC_000009.11:g.123799581_123799596T[17]GTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.123799595_123799596dup, NC_000009.11:g.123799584_123799596dup, NC_000009.11:g.123799583_123799596dup, NC_000009.11:g.123799582_123799596dup, NC_000009.11:g.123799581_123799596dup, NC_000009.11:g.123799596_123799597insTTTTTTTTTTTTTTTTT, NC_000009.11:g.123799596_123799597insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.123799581_123799596T[36]GTTTTTTTTTTTTTTTTTT[1], NG_007364.1:g.17972_17974del, NG_007364.1:g.17973_17974del, NG_007364.1:g.17974del, NG_007364.1:g.17959_17974A[17]CAAAAAAAAAAAAAAAA[1], NG_007364.1:g.17974dup, NG_007364.1:g.17959_17974A[16]TCAAAAAAAAAAAAAAAAA[1], NG_007364.1:g.17959_17974A[17]CAAAAAAAAAAAAAAAAA[1], NG_007364.1:g.17973_17974dup, NG_007364.1:g.17962_17974dup, NG_007364.1:g.17961_17974dup, NG_007364.1:g.17960_17974dup, NG_007364.1:g.17959_17974dup, NG_007364.1:g.17974_17975insAAAAAAAAAAAAAAAAA, NG_007364.1:g.17974_17975insAAAAAAAAAAAAAAAAAAAA, NG_007364.1:g.17959_17974A[18]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915009224.

rs1491500922 has merged into rs68005313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:121073520 (GRCh38)
9:123835798 (GRCh37)
Canonical SPDI:: NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:121073511:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C5 (Varview), CNTRL (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000009.12:g.121073520_121073534del, NC_000009.12:g.121073521_121073534del, NC_000009.12:g.121073522_121073534del, NC_000009.12:g.121073523_121073534del, NC_000009.12:g.121073524_121073534del, NC_000009.12:g.121073525_121073534del, NC_000009.12:g.121073526_121073534del, NC_000009.12:g.121073527_121073534del, NC_000009.12:g.121073528_121073534del, NC_000009.12:g.121073529_121073534del, NC_000009.12:g.121073530_121073534del, NC_000009.12:g.121073531_121073534del, NC_000009.12:g.121073532_121073534del, NC_000009.12:g.121073533_121073534del, NC_000009.12:g.121073534del, NC_000009.12:g.121073534dup, NC_000009.12:g.121073533_121073534dup, NC_000009.12:g.121073532_121073534dup, NC_000009.12:g.121073531_121073534dup, NC_000009.12:g.121073530_121073534dup, NC_000009.12:g.121073529_121073534dup, NC_000009.12:g.121073528_121073534dup, NC_000009.12:g.121073523_121073534dup, NC_000009.11:g.123835798_123835812del, NC_000009.11:g.123835799_123835812del, NC_000009.11:g.123835800_123835812del, NC_000009.11:g.123835801_123835812del, NC_000009.11:g.123835802_123835812del, NC_000009.11:g.123835803_123835812del, NC_000009.11:g.123835804_123835812del, NC_000009.11:g.123835805_123835812del, NC_000009.11:g.123835806_123835812del, NC_000009.11:g.123835807_123835812del, NC_000009.11:g.123835808_123835812del, NC_000009.11:g.123835809_123835812del, NC_000009.11:g.123835810_123835812del, NC_000009.11:g.123835811_123835812del, NC_000009.11:g.123835812del, NC_000009.11:g.123835812dup, NC_000009.11:g.123835811_123835812dup, NC_000009.11:g.123835810_123835812dup, NC_000009.11:g.123835809_123835812dup, NC_000009.11:g.123835808_123835812dup, NC_000009.11:g.123835807_123835812dup, NC_000009.11:g.123835806_123835812dup, NC_000009.11:g.123835801_123835812dup

Select item 14914886675.

rs1491488667 has merged into rs71370608 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 9:120993431 (GRCh38)
9:123755709 (GRCh37)
Canonical SPDI:: NC_000009.12:120993421:TATATATATATATAT:TATATATAT,NC_000009.12:120993421:TATATATATATATAT:TATATATATATAT,NC_000009.12:120993421:TATATATATATATAT:TATATATATATATATAT,NC_000009.12:120993421:TATATATATATATAT:TATATATATATATATATAT,NC_000009.12:120993421:TATATATATATATAT:TATATATATATATATATATAT
Gene:: C5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.225/9 (GENOME_DK)
TA=0.3938/393 (GoNL)
TA=0.3968/1987 (1000Genomes)
TA=0.4469/2001 (Estonian)
TA=0.4583/275 (NorthernSweden)
HGVS:: NC_000009.12:g.120993423AT[4], NC_000009.12:g.120993423AT[6], NC_000009.12:g.120993423AT[8], NC_000009.12:g.120993423AT[9], NC_000009.12:g.120993423AT[10], NC_000009.11:g.123755701AT[4], NC_000009.11:g.123755701AT[6], NC_000009.11:g.123755701AT[8], NC_000009.11:g.123755701AT[9], NC_000009.11:g.123755701AT[10], NG_007364.1:g.61842TA[4], NG_007364.1:g.61842TA[6], NG_007364.1:g.61842TA[8], NG_007364.1:g.61842TA[9], NG_007364.1:g.61842TA[10]

Select item 14914422686.

rs1491442268 has merged into rs757615788 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 9:121002224 (GRCh38)
9:123764502 (GRCh37)
Canonical SPDI:: NC_000009.12:121002216:TATATATATATAT:TATATAT,NC_000009.12:121002216:TATATATATATAT:TATATATAT,NC_000009.12:121002216:TATATATATATAT:TATATATATAT,NC_000009.12:121002216:TATATATATATAT:TATATATATATATAT,NC_000009.12:121002216:TATATATATATAT:TATATATATATATATAT
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.0877/338 (ALSPAC)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000009.12:g.121002218AT[3], NC_000009.12:g.121002218AT[4], NC_000009.12:g.121002218AT[5], NC_000009.12:g.121002218AT[7], NC_000009.12:g.121002218AT[8], NC_000009.11:g.123764496AT[3], NC_000009.11:g.123764496AT[4], NC_000009.11:g.123764496AT[5], NC_000009.11:g.123764496AT[7], NC_000009.11:g.123764496AT[8], NG_007364.1:g.53049TA[3], NG_007364.1:g.53049TA[4], NG_007364.1:g.53049TA[5], NG_007364.1:g.53049TA[7], NG_007364.1:g.53049TA[8]

Select item 14914369627.

rs1491436962 has merged into rs1173632890 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 9:121025436 (GRCh38)
9:123787714 (GRCh37)
Canonical SPDI:: NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:121025419:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
-=0.1845/924 (1000Genomes)
HGVS:: NC_000009.12:g.121025420AC[8], NC_000009.12:g.121025420AC[9], NC_000009.12:g.121025420AC[10], NC_000009.12:g.121025420AC[11], NC_000009.12:g.121025420AC[12], NC_000009.12:g.121025420AC[13], NC_000009.12:g.121025420AC[14], NC_000009.12:g.121025420AC[16], NC_000009.12:g.121025420AC[17], NC_000009.12:g.121025420AC[18], NC_000009.12:g.121025420AC[19], NC_000009.12:g.121025420AC[20], NC_000009.12:g.121025420AC[21], NC_000009.12:g.121025420AC[22], NC_000009.12:g.121025420AC[23], NC_000009.12:g.121025420AC[24], NC_000009.12:g.121025420AC[25], NC_000009.12:g.121025420AC[26], NC_000009.11:g.123787698AC[8], NC_000009.11:g.123787698AC[9], NC_000009.11:g.123787698AC[10], NC_000009.11:g.123787698AC[11], NC_000009.11:g.123787698AC[12], NC_000009.11:g.123787698AC[13], NC_000009.11:g.123787698AC[14], NC_000009.11:g.123787698AC[16], NC_000009.11:g.123787698AC[17], NC_000009.11:g.123787698AC[18], NC_000009.11:g.123787698AC[19], NC_000009.11:g.123787698AC[20], NC_000009.11:g.123787698AC[21], NC_000009.11:g.123787698AC[22], NC_000009.11:g.123787698AC[23], NC_000009.11:g.123787698AC[24], NC_000009.11:g.123787698AC[25], NC_000009.11:g.123787698AC[26], NG_007364.1:g.29828GT[8], NG_007364.1:g.29828GT[9], NG_007364.1:g.29828GT[10], NG_007364.1:g.29828GT[11], NG_007364.1:g.29828GT[12], NG_007364.1:g.29828GT[13], NG_007364.1:g.29828GT[14], NG_007364.1:g.29828GT[16], NG_007364.1:g.29828GT[17], NG_007364.1:g.29828GT[18], NG_007364.1:g.29828GT[19], NG_007364.1:g.29828GT[20], NG_007364.1:g.29828GT[21], NG_007364.1:g.29828GT[22], NG_007364.1:g.29828GT[23], NG_007364.1:g.29828GT[24], NG_007364.1:g.29828GT[25], NG_007364.1:g.29828GT[26]

Select item 14913974788.

rs1491397478 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:121073511 (GRCh38)
9:123835789 (GRCh37)
Canonical SPDI:: NC_000009.12:121073510:CT:
Gene:: C5 (Varview), CNTRL (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.121073511_121073512del, NC_000009.11:g.123835789_123835790del

Select item 14913868029.

rs1491386802 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:121037303 (GRCh38)
9:123799582 (GRCh37)
Canonical SPDI:: NC_000009.12:121037303:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTTTTTTTTTTTTG=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.121037304_121037318T[15]GTTTTTTTTTTTTTTT[1], NC_000009.11:g.123799582_123799596T[15]GTTTTTTTTTTTTTTT[1], NG_007364.1:g.17959_17973A[15]CAAAAAAAAAAAAAAA[1]

Select item 149137508610.

rs1491375086 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:121002216 (GRCh38)
9:123764494 (GRCh37)
Canonical SPDI:: NC_000009.12:121002215:GT:
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.121002216_121002217del, NC_000009.11:g.123764494_123764495del, NG_007364.1:g.53060_53061del

Select item 149131092211.

rs1491310922 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 9:121002237 (GRCh38)
9:123764516 (GRCh37)
Canonical SPDI:: NC_000009.12:121002237::AC
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0.00868/103 (ALFA)
AC=0.00029/15 (GnomAD)
HGVS:: NC_000009.12:g.121002237_121002238insAC, NC_000009.11:g.123764515_123764516insAC, NG_007364.1:g.53039_53040insGT

Select item 149128828612.

rs1491288286 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 9:121002261 (GRCh38)
9:123764540 (GRCh37)
Canonical SPDI:: NC_000009.12:121002261::AC
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0.00008/1 (ALFA)
AC=0.00026/24 (GnomAD)
AC=0.00348/6 (Korea1K)
AC=0.00669/108 (TOMMO)
HGVS:: NC_000009.12:g.121002261_121002262insAC, NC_000009.11:g.123764539_123764540insAC, NG_007364.1:g.53015_53016insGT

Select item 149128257013.

rs1491282570 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:121035151 (GRCh38)
9:123797429 (GRCh37)
Canonical SPDI:: NC_000009.12:121035150:GT:
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0264/98 (TWINSUK)
-=0.0267/103 (ALSPAC)
HGVS:: NC_000009.12:g.121035151_121035152del, NC_000009.11:g.123797429_123797430del, NG_007364.1:g.20125_20126del

Select item 149125720314.

rs1491257203 has merged into rs113125021 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 9:121069539 (GRCh38)
9:123831817 (GRCh37)
Canonical SPDI:: NC_000009.12:121069528:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:121069528:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:121069528:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:121069528:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:121069528:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:121069528:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: C5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.00008/1 (ALFA)
T=0.1/60 (NorthernSweden)
HGVS:: NC_000009.12:g.121069539_121069542del, NC_000009.12:g.121069540_121069542del, NC_000009.12:g.121069541_121069542del, NC_000009.12:g.121069542del, NC_000009.12:g.121069542dup, NC_000009.12:g.121069541_121069542dup, NC_000009.11:g.123831817_123831820del, NC_000009.11:g.123831818_123831820del, NC_000009.11:g.123831819_123831820del, NC_000009.11:g.123831820del, NC_000009.11:g.123831820dup, NC_000009.11:g.123831819_123831820dup

Select item 149116322815.

rs1491163228 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 9:121002238 (GRCh38)
9:123764516 (GRCh37)
Canonical SPDI:: NC_000009.12:121002236:TGT:T,NC_000009.12:121002236:TGT:TGTGT
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.121002238_121002239del, NC_000009.12:g.121002238_121002239dup, NC_000009.11:g.123764516_123764517del, NC_000009.11:g.123764516_123764517dup, NG_007364.1:g.53039_53040del, NG_007364.1:g.53039_53040dup

Select item 149114865916.

rs1491148659 has merged into rs772023287 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 9:121025419 (GRCh38)
9:123787697 (GRCh37)
Canonical SPDI:: NC_000009.12:121025416:TATA:TA,NC_000009.12:121025416:TATA:TATATA
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.121025417TA[1], NC_000009.12:g.121025417TA[3], NC_000009.11:g.123787695TA[1], NC_000009.11:g.123787695TA[3], NG_007364.1:g.29857TA[1], NG_007364.1:g.29857TA[3]

Select item 149103940117.

rs1491039401 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:120984216 (GRCh38)
9:123746494 (GRCh37)
Canonical SPDI:: NC_000009.12:120984215:TG:
Gene:: C5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000009.12:g.120984216_120984217del, NC_000009.11:g.123746494_123746495del, NG_007364.1:g.71060_71061del

Select item 149103716718.

rs1491037167 has merged into rs41308022 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 9:121033087 (GRCh38)
9:123795365 (GRCh37)
Canonical SPDI:: NC_000009.12:121033075:ACACACACACACACA:ACACACACACA,NC_000009.12:121033075:ACACACACACACACA:ACACACACACACA,NC_000009.12:121033075:ACACACACACACACA:ACACACACACACACACA,NC_000009.12:121033075:ACACACACACACACA:ACACACACACACACACACA,NC_000009.12:121033075:ACACACACACACACA:ACACACACACACACACACACA
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
AC=0.10833/65 (NorthernSweden)
AC=0.125/5 (GENOME_DK)
AC=0.13551/29 (Vietnamese)
AC=0.14335/718 (1000Genomes)
AC=0.20906/383 (Korea1K)
HGVS:: NC_000009.12:g.121033077CA[5], NC_000009.12:g.121033077CA[6], NC_000009.12:g.121033077CA[8], NC_000009.12:g.121033077CA[9], NC_000009.12:g.121033077CA[10], NC_000009.11:g.123795355CA[5], NC_000009.11:g.123795355CA[6], NC_000009.11:g.123795355CA[8], NC_000009.11:g.123795355CA[9], NC_000009.11:g.123795355CA[10], NG_007364.1:g.22188GT[5], NG_007364.1:g.22188GT[6], NG_007364.1:g.22188GT[8], NG_007364.1:g.22188GT[9], NG_007364.1:g.22188GT[10]

Select item 149099228319.

rs1490992283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 9:121036806 (GRCh38)
9:123799084 (GRCh37)
Canonical SPDI:: NC_000009.12:121036804:TATT:T
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000671/3 (ALFA)
-=0.000021/3 (GnomAD)
-=0.00067/3 (Estonian)
HGVS:: NC_000009.12:g.121036806_121036808del, NC_000009.11:g.123799084_123799086del, NG_007364.1:g.18470_18472del

Select item 149098386920.

rs1490983869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:121027998 (GRCh38)
9:123790276 (GRCh37)
Canonical SPDI:: NC_000009.12:121027997:A:G
Gene:: C5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.121027998A>G, NC_000009.11:g.123790276A>G, NG_007364.1:g.27279T>C

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