SNP Links for Nucleotide (Select 433660870) - SNP

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Select item 14915735411.

rs1491573541 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:197913333 (GRCh38)
3:197640204 (GRCh37)
Canonical SPDI:: NC_000003.12:197913331:GCG:G
Gene:: IQCG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000082/11 (GnomAD)
HGVS:: NC_000003.12:g.197913333_197913334del, NC_000003.11:g.197640204_197640205del, NG_033072.1:g.51683_51684del, NG_083259.1:g.803_804del

Select item 14915594222.

rs1491559422 has merged into rs35269242 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:197957471 (GRCh38)
3:197684342 (GRCh37)
Canonical SPDI:: NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197957458:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IQCG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.07288/43 (NorthernSweden)
-=0.29832/1494 (1000Genomes)
HGVS:: NC_000003.12:g.197957471_197957477del, NC_000003.12:g.197957472_197957477del, NC_000003.12:g.197957473_197957477del, NC_000003.12:g.197957474_197957477del, NC_000003.12:g.197957475_197957477del, NC_000003.12:g.197957476_197957477del, NC_000003.12:g.197957477del, NC_000003.12:g.197957477dup, NC_000003.12:g.197957476_197957477dup, NC_000003.12:g.197957475_197957477dup, NC_000003.12:g.197957474_197957477dup, NC_000003.12:g.197957473_197957477dup, NC_000003.11:g.197684342_197684348del, NC_000003.11:g.197684343_197684348del, NC_000003.11:g.197684344_197684348del, NC_000003.11:g.197684345_197684348del, NC_000003.11:g.197684346_197684348del, NC_000003.11:g.197684347_197684348del, NC_000003.11:g.197684348del, NC_000003.11:g.197684348dup, NC_000003.11:g.197684347_197684348dup, NC_000003.11:g.197684346_197684348dup, NC_000003.11:g.197684345_197684348dup, NC_000003.11:g.197684344_197684348dup, NG_047207.1:g.2272_2278del, NG_047207.1:g.2273_2278del, NG_047207.1:g.2274_2278del, NG_047207.1:g.2275_2278del, NG_047207.1:g.2276_2278del, NG_047207.1:g.2277_2278del, NG_047207.1:g.2278del, NG_047207.1:g.2278dup, NG_047207.1:g.2277_2278dup, NG_047207.1:g.2276_2278dup, NG_047207.1:g.2275_2278dup, NG_047207.1:g.2274_2278dup, NG_033072.1:g.7551_7557del, NG_033072.1:g.7552_7557del, NG_033072.1:g.7553_7557del, NG_033072.1:g.7554_7557del, NG_033072.1:g.7555_7557del, NG_033072.1:g.7556_7557del, NG_033072.1:g.7557del, NG_033072.1:g.7557dup, NG_033072.1:g.7556_7557dup, NG_033072.1:g.7555_7557dup, NG_033072.1:g.7554_7557dup, NG_033072.1:g.7553_7557dup, NG_011743.1:g.12291_12297del, NG_011743.1:g.12292_12297del, NG_011743.1:g.12293_12297del, NG_011743.1:g.12294_12297del, NG_011743.1:g.12295_12297del, NG_011743.1:g.12296_12297del, NG_011743.1:g.12297del, NG_011743.1:g.12297dup, NG_011743.1:g.12296_12297dup, NG_011743.1:g.12295_12297dup, NG_011743.1:g.12294_12297dup, NG_011743.1:g.12293_12297dup

Select item 14915429173.

rs1491542917 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTATATATGTATAT [Show Flanks]
Chromosome:: 3:197932890 (GRCh38)
3:197659762 (GRCh37)
Canonical SPDI:: NC_000003.12:197932890:TATAT:TATATATTATATATGTATAT
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATTATATATGTATAT=0./0 (ALFA)
TATATATTATATATG=0.000175/19 (GnomAD)
HGVS:: NC_000003.12:g.197932891_197932895TATATAT[2]GTATAT[1], NC_000003.11:g.197659762_197659766TATATAT[2]GTATAT[1], NG_033072.1:g.32121_32125AT[2]ACATATATAATATATA[1]

Select item 14915417444.

rs1491541744 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACATACATATATATATATATATATA,ATA,ATACATACATATATATATATACATACATATATATATATATATATA,ATATA,ATATATA,ATATATATA [Show Flanks]
Chromosome:: 3:197904111 (GRCh38)
3:197630983 (GRCh37)
Canonical SPDI:: NC_000003.12:197904111::A,NC_000003.12:197904111::ACATACATATATATATATATATATA,NC_000003.12:197904111::ATA,NC_000003.12:197904111::ATACATACATATATATATATACATACATATATATATATATATATA,NC_000003.12:197904111::ATATA,NC_000003.12:197904111::ATATATA,NC_000003.12:197904111::ATATATATA
Gene:: IQCG (Varview), LOC124906330 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATATA=0.00031/8 (TOMMO)
HGVS:: NC_000003.12:g.197904111_197904112insA, NC_000003.12:g.197904111_197904112insACATACATATATATATATATATATA, NC_000003.12:g.197904111_197904112insATA, NC_000003.12:g.197904111_197904112insATACATACATATATATATATACATACATATATATATATATATATA, NC_000003.12:g.197904111_197904112insATATA, NC_000003.12:g.197904111_197904112insATATATA, NC_000003.12:g.197904111_197904112insATATATATA, NC_000003.11:g.197630982_197630983insA, NC_000003.11:g.197630982_197630983insACATACATATATATATATATATATA, NC_000003.11:g.197630982_197630983insATA, NC_000003.11:g.197630982_197630983insATACATACATATATATATATACATACATATATATATATATATATA, NC_000003.11:g.197630982_197630983insATATA, NC_000003.11:g.197630982_197630983insATATATA, NC_000003.11:g.197630982_197630983insATATATATA, NG_033072.1:g.60904_60905insT, NG_033072.1:g.60904_60905insTATATATATATATATATATGTATGT, NG_033072.1:g.60904_60905insTAT, NG_033072.1:g.60904_60905insTATATATATATATATATATGTATGTATATATATATATGTATGTAT, NG_033072.1:g.60904_60905insTATAT, NG_033072.1:g.60904_60905insTATATAT, NG_033072.1:g.60904_60905insTATATATAT

Select item 14915392085.

rs1491539208 has merged into rs1284886675 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 3:197897785 (GRCh38)
3:197624656 (GRCh37)
Canonical SPDI:: NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197897770:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IQCG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.197897785_197897789del, NC_000003.12:g.197897786_197897789del, NC_000003.12:g.197897787_197897789del, NC_000003.12:g.197897788_197897789del, NC_000003.12:g.197897789del, NC_000003.12:g.197897789dup, NC_000003.12:g.197897788_197897789dup, NC_000003.12:g.197897787_197897789dup, NC_000003.12:g.197897786_197897789dup, NC_000003.12:g.197897785_197897789dup, NC_000003.12:g.197897784_197897789dup, NC_000003.11:g.197624656_197624660del, NC_000003.11:g.197624657_197624660del, NC_000003.11:g.197624658_197624660del, NC_000003.11:g.197624659_197624660del, NC_000003.11:g.197624660del, NC_000003.11:g.197624660dup, NC_000003.11:g.197624659_197624660dup, NC_000003.11:g.197624658_197624660dup, NC_000003.11:g.197624657_197624660dup, NC_000003.11:g.197624656_197624660dup, NC_000003.11:g.197624655_197624660dup, NG_033072.1:g.67241_67245del, NG_033072.1:g.67242_67245del, NG_033072.1:g.67243_67245del, NG_033072.1:g.67244_67245del, NG_033072.1:g.67245del, NG_033072.1:g.67245dup, NG_033072.1:g.67244_67245dup, NG_033072.1:g.67243_67245dup, NG_033072.1:g.67242_67245dup, NG_033072.1:g.67241_67245dup, NG_033072.1:g.67240_67245dup

Select item 14915015826.

rs1491501582 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 3:197904072 (GRCh38)
3:197630944 (GRCh37)
Canonical SPDI:: NC_000003.12:197904072:T:TGT
Gene:: IQCG (Varview), LOC124906330 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00027/2 (GnomAD)
HGVS:: NC_000003.12:g.197904073_197904074insGT, NC_000003.11:g.197630944_197630945insGT, NG_033072.1:g.60943_60944insCA

Select item 14915007397.

rs1491500739 [Homo sapiens]

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

Select item 14914987398.

rs1491498739 has merged into rs1342074104 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATATAT,ATATTATATAT [Show Flanks]
Chromosome:: 3:197932894 (GRCh38)
3:197659765 (GRCh37)
Canonical SPDI:: NC_000003.12:197932889:ATATAT:ATAT,NC_000003.12:197932889:ATATAT:ATATATATAT,NC_000003.12:197932889:ATATAT:ATATATATTATATAT
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
-=0.000177/3 (TOMMO)
ATATATATT=0.001892/207 (GnomAD)
HGVS:: NC_000003.12:g.197932890AT[2], NC_000003.12:g.197932890AT[5], NC_000003.12:g.197932890_197932895AT[4]TA[3]T[1], NC_000003.11:g.197659761AT[2], NC_000003.11:g.197659761AT[5], NC_000003.11:g.197659761_197659766AT[4]TA[3]T[1], NG_033072.1:g.32121AT[2], NG_033072.1:g.32121AT[5], NG_033072.1:g.32121_32126ATATATA[2]T[1]

Select item 14914852509.

rs1491485250 has merged into rs768844850 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:197947937 (GRCh38)
3:197674808 (GRCh37)
Canonical SPDI:: NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197947928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000003.12:g.197947937_197947952del, NC_000003.12:g.197947938_197947952del, NC_000003.12:g.197947939_197947952del, NC_000003.12:g.197947940_197947952del, NC_000003.12:g.197947941_197947952del, NC_000003.12:g.197947942_197947952del, NC_000003.12:g.197947943_197947952del, NC_000003.12:g.197947944_197947952del, NC_000003.12:g.197947945_197947952del, NC_000003.12:g.197947946_197947952del, NC_000003.12:g.197947947_197947952del, NC_000003.12:g.197947948_197947952del, NC_000003.12:g.197947949_197947952del, NC_000003.12:g.197947950_197947952del, NC_000003.12:g.197947951_197947952del, NC_000003.12:g.197947952del, NC_000003.12:g.197947952dup, NC_000003.12:g.197947951_197947952dup, NC_000003.12:g.197947950_197947952dup, NC_000003.12:g.197947949_197947952dup, NC_000003.12:g.197947948_197947952dup, NC_000003.12:g.197947947_197947952dup, NC_000003.12:g.197947946_197947952dup, NC_000003.12:g.197947945_197947952dup, NC_000003.12:g.197947944_197947952dup, NC_000003.12:g.197947943_197947952dup, NC_000003.12:g.197947941_197947952dup, NC_000003.12:g.197947952_197947953insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197947952_197947953insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197947952_197947953insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197674808_197674823del, NC_000003.11:g.197674809_197674823del, NC_000003.11:g.197674810_197674823del, NC_000003.11:g.197674811_197674823del, NC_000003.11:g.197674812_197674823del, NC_000003.11:g.197674813_197674823del, NC_000003.11:g.197674814_197674823del, NC_000003.11:g.197674815_197674823del, NC_000003.11:g.197674816_197674823del, NC_000003.11:g.197674817_197674823del, NC_000003.11:g.197674818_197674823del, NC_000003.11:g.197674819_197674823del, NC_000003.11:g.197674820_197674823del, NC_000003.11:g.197674821_197674823del, NC_000003.11:g.197674822_197674823del, NC_000003.11:g.197674823del, NC_000003.11:g.197674823dup, NC_000003.11:g.197674822_197674823dup, NC_000003.11:g.197674821_197674823dup, NC_000003.11:g.197674820_197674823dup, NC_000003.11:g.197674819_197674823dup, NC_000003.11:g.197674818_197674823dup, NC_000003.11:g.197674817_197674823dup, NC_000003.11:g.197674816_197674823dup, NC_000003.11:g.197674815_197674823dup, NC_000003.11:g.197674814_197674823dup, NC_000003.11:g.197674812_197674823dup, NC_000003.11:g.197674823_197674824insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197674823_197674824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197674823_197674824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.17072_17087del, NG_033072.1:g.17073_17087del, NG_033072.1:g.17074_17087del, NG_033072.1:g.17075_17087del, NG_033072.1:g.17076_17087del, NG_033072.1:g.17077_17087del, NG_033072.1:g.17078_17087del, NG_033072.1:g.17079_17087del, NG_033072.1:g.17080_17087del, NG_033072.1:g.17081_17087del, NG_033072.1:g.17082_17087del, NG_033072.1:g.17083_17087del, NG_033072.1:g.17084_17087del, NG_033072.1:g.17085_17087del, NG_033072.1:g.17086_17087del, NG_033072.1:g.17087del, NG_033072.1:g.17087dup, NG_033072.1:g.17086_17087dup, NG_033072.1:g.17085_17087dup, NG_033072.1:g.17084_17087dup, NG_033072.1:g.17083_17087dup, NG_033072.1:g.17082_17087dup, NG_033072.1:g.17081_17087dup, NG_033072.1:g.17080_17087dup, NG_033072.1:g.17079_17087dup, NG_033072.1:g.17078_17087dup, NG_033072.1:g.17076_17087dup, NG_033072.1:g.17087_17088insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.17087_17088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.17087_17088insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011743.1:g.2757_2772del, NG_011743.1:g.2758_2772del, NG_011743.1:g.2759_2772del, NG_011743.1:g.2760_2772del, NG_011743.1:g.2761_2772del, NG_011743.1:g.2762_2772del, NG_011743.1:g.2763_2772del, NG_011743.1:g.2764_2772del, NG_011743.1:g.2765_2772del, NG_011743.1:g.2766_2772del, NG_011743.1:g.2767_2772del, NG_011743.1:g.2768_2772del, NG_011743.1:g.2769_2772del, NG_011743.1:g.2770_2772del, NG_011743.1:g.2771_2772del, NG_011743.1:g.2772del, NG_011743.1:g.2772dup, NG_011743.1:g.2771_2772dup, NG_011743.1:g.2770_2772dup, NG_011743.1:g.2769_2772dup, NG_011743.1:g.2768_2772dup, NG_011743.1:g.2767_2772dup, NG_011743.1:g.2766_2772dup, NG_011743.1:g.2765_2772dup, NG_011743.1:g.2764_2772dup, NG_011743.1:g.2763_2772dup, NG_011743.1:g.2761_2772dup, NG_011743.1:g.2772_2773insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011743.1:g.2772_2773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011743.1:g.2772_2773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149147971510.

rs1491479715 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:197952188 (GRCh38)
3:197679059 (GRCh37)
Canonical SPDI:: NC_000003.12:197952187:TG:
Gene:: RPL35A (Varview), IQCG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000003.12:g.197952188_197952189del, NC_000003.11:g.197679059_197679060del, NG_033072.1:g.12827_12828del, NG_011743.1:g.7008_7009del

Select item 149145816811.

rs1491458168 has merged into rs11454058 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:197915172 (GRCh38)
3:197642043 (GRCh37)
Canonical SPDI:: NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:197915163:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3468/1737 (1000Genomes)
HGVS:: NC_000003.12:g.197915172_197915181del, NC_000003.12:g.197915174_197915181del, NC_000003.12:g.197915175_197915181del, NC_000003.12:g.197915176_197915181del, NC_000003.12:g.197915177_197915181del, NC_000003.12:g.197915178_197915181del, NC_000003.12:g.197915179_197915181del, NC_000003.12:g.197915180_197915181del, NC_000003.12:g.197915181del, NC_000003.12:g.197915181dup, NC_000003.12:g.197915180_197915181dup, NC_000003.12:g.197915179_197915181dup, NC_000003.12:g.197915178_197915181dup, NC_000003.12:g.197915177_197915181dup, NC_000003.12:g.197915176_197915181dup, NC_000003.12:g.197915175_197915181dup, NC_000003.12:g.197915174_197915181dup, NC_000003.12:g.197915172_197915181dup, NC_000003.12:g.197915171_197915181dup, NC_000003.12:g.197915170_197915181dup, NC_000003.12:g.197915169_197915181dup, NC_000003.12:g.197915168_197915181dup, NC_000003.12:g.197915167_197915181dup, NC_000003.12:g.197915165_197915181dup, NC_000003.12:g.197915164_197915181dup, NC_000003.12:g.197915181_197915182insAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.197915181_197915182insAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.197915181_197915182insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.197915181_197915182insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.197915181_197915182insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.197915181_197915182insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.197915181_197915182insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.197642043_197642052del, NC_000003.11:g.197642045_197642052del, NC_000003.11:g.197642046_197642052del, NC_000003.11:g.197642047_197642052del, NC_000003.11:g.197642048_197642052del, NC_000003.11:g.197642049_197642052del, NC_000003.11:g.197642050_197642052del, NC_000003.11:g.197642051_197642052del, NC_000003.11:g.197642052del, NC_000003.11:g.197642052dup, NC_000003.11:g.197642051_197642052dup, NC_000003.11:g.197642050_197642052dup, NC_000003.11:g.197642049_197642052dup, NC_000003.11:g.197642048_197642052dup, NC_000003.11:g.197642047_197642052dup, NC_000003.11:g.197642046_197642052dup, NC_000003.11:g.197642045_197642052dup, NC_000003.11:g.197642043_197642052dup, NC_000003.11:g.197642042_197642052dup, NC_000003.11:g.197642041_197642052dup, NC_000003.11:g.197642040_197642052dup, NC_000003.11:g.197642039_197642052dup, NC_000003.11:g.197642038_197642052dup, NC_000003.11:g.197642036_197642052dup, NC_000003.11:g.197642035_197642052dup, NC_000003.11:g.197642052_197642053insAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.197642052_197642053insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.197642052_197642053insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.197642052_197642053insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.197642052_197642053insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.197642052_197642053insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.197642052_197642053insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.49843_49852del, NG_033072.1:g.49845_49852del, NG_033072.1:g.49846_49852del, NG_033072.1:g.49847_49852del, NG_033072.1:g.49848_49852del, NG_033072.1:g.49849_49852del, NG_033072.1:g.49850_49852del, NG_033072.1:g.49851_49852del, NG_033072.1:g.49852del, NG_033072.1:g.49852dup, NG_033072.1:g.49851_49852dup, NG_033072.1:g.49850_49852dup, NG_033072.1:g.49849_49852dup, NG_033072.1:g.49848_49852dup, NG_033072.1:g.49847_49852dup, NG_033072.1:g.49846_49852dup, NG_033072.1:g.49845_49852dup, NG_033072.1:g.49843_49852dup, NG_033072.1:g.49842_49852dup, NG_033072.1:g.49841_49852dup, NG_033072.1:g.49840_49852dup, NG_033072.1:g.49839_49852dup, NG_033072.1:g.49838_49852dup, NG_033072.1:g.49836_49852dup, NG_033072.1:g.49835_49852dup, NG_033072.1:g.49852_49853insTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.49852_49853insTTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.49852_49853insTTTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.49852_49853insTTTTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.49852_49853insTTTTTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.49852_49853insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.49852_49853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149144086412.

rs1491440864 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:197941349 (GRCh38)
3:197668220 (GRCh37)
Canonical SPDI:: NC_000003.12:197941345:TCTCT:TCT
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0.00008/1 (ALFA)
-=0.00013/6 (GnomAD)
HGVS:: NC_000003.12:g.197941347CT[1], NC_000003.11:g.197668218CT[1], NG_033072.1:g.23667GA[1]

Select item 149144002613.

rs1491440026 has merged into rs869108308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTCTTTATGATTTTCATTCTGGGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:197934196 (GRCh38)
3:197661067 (GRCh37)
Canonical SPDI:: NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTCTTTATGATTTTCATTCTGGGTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:197934183:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.197934196_197934200del, NC_000003.12:g.197934197_197934200del, NC_000003.12:g.197934198_197934200del, NC_000003.12:g.197934199_197934200del, NC_000003.12:g.197934200del, NC_000003.12:g.197934200dup, NC_000003.12:g.197934199_197934200dup, NC_000003.12:g.197934198_197934200dup, NC_000003.12:g.197934197_197934200dup, NC_000003.12:g.197934196_197934200dup, NC_000003.12:g.197934195_197934200dup, NC_000003.12:g.197934194_197934200dup, NC_000003.12:g.197934193_197934200dup, NC_000003.12:g.197934192_197934200dup, NC_000003.12:g.197934191_197934200dup, NC_000003.12:g.197934190_197934200dup, NC_000003.12:g.197934189_197934200dup, NC_000003.12:g.197934184_197934200T[29]CTTTTTTTCTTTATGATTTTCATTCTGGGTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.197934188_197934200dup, NC_000003.12:g.197934187_197934200dup, NC_000003.12:g.197934186_197934200dup, NC_000003.12:g.197934184_197934200dup, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.197934200_197934201insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661067_197661071del, NC_000003.11:g.197661068_197661071del, NC_000003.11:g.197661069_197661071del, NC_000003.11:g.197661070_197661071del, NC_000003.11:g.197661071del, NC_000003.11:g.197661071dup, NC_000003.11:g.197661070_197661071dup, NC_000003.11:g.197661069_197661071dup, NC_000003.11:g.197661068_197661071dup, NC_000003.11:g.197661067_197661071dup, NC_000003.11:g.197661066_197661071dup, NC_000003.11:g.197661065_197661071dup, NC_000003.11:g.197661064_197661071dup, NC_000003.11:g.197661063_197661071dup, NC_000003.11:g.197661062_197661071dup, NC_000003.11:g.197661061_197661071dup, NC_000003.11:g.197661060_197661071dup, NC_000003.11:g.197661055_197661071T[29]CTTTTTTTCTTTATGATTTTCATTCTGGGTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.197661059_197661071dup, NC_000003.11:g.197661058_197661071dup, NC_000003.11:g.197661057_197661071dup, NC_000003.11:g.197661055_197661071dup, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.197661071_197661072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033072.1:g.30828_30832del, NG_033072.1:g.30829_30832del, NG_033072.1:g.30830_30832del, NG_033072.1:g.30831_30832del, NG_033072.1:g.30832del, NG_033072.1:g.30832dup, NG_033072.1:g.30831_30832dup, NG_033072.1:g.30830_30832dup, NG_033072.1:g.30829_30832dup, NG_033072.1:g.30828_30832dup, NG_033072.1:g.30827_30832dup, NG_033072.1:g.30826_30832dup, NG_033072.1:g.30825_30832dup, NG_033072.1:g.30824_30832dup, NG_033072.1:g.30823_30832dup, NG_033072.1:g.30822_30832dup, NG_033072.1:g.30821_30832dup, NG_033072.1:g.30816_30832A[19]CCCAGAATGAAAATCATAAAGAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_033072.1:g.30820_30832dup, NG_033072.1:g.30819_30832dup, NG_033072.1:g.30818_30832dup, NG_033072.1:g.30816_30832dup, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033072.1:g.30832_30833insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149135716814.

rs1491357168 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:197946434 (GRCh38)
3:197673305 (GRCh37)
Canonical SPDI:: NC_000003.12:197946433:CA:
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00078/22 (TOMMO)
HGVS:: NC_000003.12:g.197946434_197946435del, NC_000003.11:g.197673305_197673306del, NG_033072.1:g.18581_18582del, NG_011743.1:g.1254_1255del

Select item 149133966115.

rs1491339661 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:197914928 (GRCh38)
3:197641799 (GRCh37)
Canonical SPDI:: NC_000003.12:197914927:CT:
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197914928_197914929del, NC_000003.11:g.197641799_197641800del, NG_033072.1:g.50087_50088del

Select item 149132469016.

rs1491324690 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:197897770 (GRCh38)
3:197624641 (GRCh37)
Canonical SPDI:: NC_000003.12:197897769:CT:
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197897770_197897771del, NC_000003.11:g.197624641_197624642del, NG_033072.1:g.67245_67246del

Select item 149132295017.

rs1491322950 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:197914928 (GRCh38)
3:197641800 (GRCh37)
Canonical SPDI:: NC_000003.12:197914928:T:TT
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000003.12:g.197914929dup, NC_000003.11:g.197641800dup, NG_033072.1:g.50087dup

Select item 149130871518.

rs1491308715 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:197947928 (GRCh38)
3:197674799 (GRCh37)
Canonical SPDI:: NC_000003.12:197947927:CT:
Gene:: IQCG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000596/79 (GnomAD)
HGVS:: NC_000003.12:g.197947928_197947929del, NC_000003.11:g.197674799_197674800del, NG_033072.1:g.17087_17088del, NG_011743.1:g.2748_2749del

Select item 149130114019.

rs1491301140 has merged into rs140027370 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TATATA,TATATATATA,TATATATATACATATATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 3:197904075 (GRCh38)
3:197630946 (GRCh37)
Canonical SPDI:: NC_000003.12:197904071:ATATATATATA:ATA,NC_000003.12:197904071:ATATATATATA:ATATATATA,NC_000003.12:197904071:ATATATATATA:ATATATATATATA,NC_000003.12:197904071:ATATATATATA:ATATATATATATACATATATATATATA,NC_000003.12:197904071:ATATATATATA:ATATATATATATATA
Gene:: IQCG (Varview), LOC124906330 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
AT=0.01534/158 (TOMMO)
AT=0.1551/76 (NorthernSweden)
AT=0.32748/1640 (1000Genomes)
HGVS:: NC_000003.12:g.197904073TA[1], NC_000003.12:g.197904073TA[4], NC_000003.12:g.197904073TA[6], NC_000003.12:g.197904072_197904082AT[6]ACATATATATATATA[1], NC_000003.12:g.197904073TA[7], NC_000003.11:g.197630944TA[1], NC_000003.11:g.197630944TA[4], NC_000003.11:g.197630944TA[6], NC_000003.11:g.197630943_197630953AT[6]ACATATATATATATA[1], NC_000003.11:g.197630944TA[7], NG_033072.1:g.60935AT[1], NG_033072.1:g.60935AT[4], NG_033072.1:g.60935AT[6], NG_033072.1:g.60934_60944TA[6]TGTATATATATATAT[1], NG_033072.1:g.60935AT[7]

Select item 149128241220.

rs1491282412 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,TTTG [Show Flanks]
Chromosome:: 3:197952188 (GRCh38)
3:197679060 (GRCh37)
Canonical SPDI:: NC_000003.12:197952188::C,NC_000003.12:197952188::TTTG
Gene:: RPL35A (Varview), IQCG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTG=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.197952188_197952189insC, NC_000003.12:g.197952188_197952189insTTTG, NC_000003.11:g.197679059_197679060insC, NC_000003.11:g.197679059_197679060insTTTG, NG_033072.1:g.12827_12828insG, NG_033072.1:g.12827_12828insCAAA, NG_011743.1:g.7008_7009insC, NG_011743.1:g.7008_7009insTTTG

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