SNP Links for Gene (Select 646603) - SNP

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Select item 14915882641.

rs1491588264 has merged into rs70956871 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 4:145749083 (GRCh38)
4:146670235 (GRCh37)
Canonical SPDI:: NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT
Gene:: C4orf51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATATATAT=0./0 (ALFA)
TA=0.02167/13 (NorthernSweden)
HGVS:: NC_000004.12:g.145749067AT[8], NC_000004.12:g.145749067AT[9], NC_000004.12:g.145749067AT[11], NC_000004.12:g.145749067AT[12], NC_000004.12:g.145749067AT[13], NC_000004.12:g.145749067AT[14], NC_000004.12:g.145749067AT[15], NC_000004.12:g.145749067AT[16], NC_000004.12:g.145749067AT[17], NC_000004.11:g.146670219AT[8], NC_000004.11:g.146670219AT[9], NC_000004.11:g.146670219AT[11], NC_000004.11:g.146670219AT[12], NC_000004.11:g.146670219AT[13], NC_000004.11:g.146670219AT[14], NC_000004.11:g.146670219AT[15], NC_000004.11:g.146670219AT[16], NC_000004.11:g.146670219AT[17]

Select item 14915832932.

rs1491583293 has merged into rs10605153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:145781198 (GRCh38)
4:146702350 (GRCh37)
Canonical SPDI:: NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145781195:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF827 (Varview), C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000004.12:g.145781198_145781217del, NC_000004.12:g.145781202_145781217del, NC_000004.12:g.145781203_145781217del, NC_000004.12:g.145781204_145781217del, NC_000004.12:g.145781205_145781217del, NC_000004.12:g.145781206_145781217del, NC_000004.12:g.145781207_145781217del, NC_000004.12:g.145781209_145781217del, NC_000004.12:g.145781210_145781217del, NC_000004.12:g.145781211_145781217del, NC_000004.12:g.145781212_145781217del, NC_000004.12:g.145781214_145781217del, NC_000004.12:g.145781215_145781217del, NC_000004.12:g.145781216_145781217del, NC_000004.12:g.145781217del, NC_000004.12:g.145781217dup, NC_000004.12:g.145781216_145781217dup, NC_000004.12:g.145781215_145781217dup, NC_000004.12:g.145781214_145781217dup, NC_000004.12:g.145781213_145781217dup, NC_000004.12:g.145781212_145781217dup, NC_000004.12:g.145781211_145781217dup, NC_000004.12:g.145781210_145781217dup, NC_000004.12:g.145781209_145781217dup, NC_000004.12:g.145781208_145781217dup, NC_000004.12:g.145781207_145781217dup, NC_000004.12:g.145781206_145781217dup, NC_000004.12:g.145781205_145781217dup, NC_000004.12:g.145781204_145781217dup, NC_000004.12:g.145781203_145781217dup, NC_000004.12:g.145781202_145781217dup, NC_000004.12:g.145781201_145781217dup, NC_000004.12:g.145781200_145781217dup, NC_000004.12:g.145781199_145781217dup, NC_000004.12:g.145781198_145781217dup, NC_000004.12:g.145781197_145781217dup, NC_000004.12:g.145781196_145781217dup, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781217_145781218insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.145781196_145781217A[56]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.145781196_145781217A[30]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.146702350_146702369del, NC_000004.11:g.146702354_146702369del, NC_000004.11:g.146702355_146702369del, NC_000004.11:g.146702356_146702369del, NC_000004.11:g.146702357_146702369del, NC_000004.11:g.146702358_146702369del, NC_000004.11:g.146702359_146702369del, NC_000004.11:g.146702361_146702369del, NC_000004.11:g.146702362_146702369del, NC_000004.11:g.146702363_146702369del, NC_000004.11:g.146702364_146702369del, NC_000004.11:g.146702366_146702369del, NC_000004.11:g.146702367_146702369del, NC_000004.11:g.146702368_146702369del, NC_000004.11:g.146702369del, NC_000004.11:g.146702369dup, NC_000004.11:g.146702368_146702369dup, NC_000004.11:g.146702367_146702369dup, NC_000004.11:g.146702366_146702369dup, NC_000004.11:g.146702365_146702369dup, NC_000004.11:g.146702364_146702369dup, NC_000004.11:g.146702363_146702369dup, NC_000004.11:g.146702362_146702369dup, NC_000004.11:g.146702361_146702369dup, NC_000004.11:g.146702360_146702369dup, NC_000004.11:g.146702359_146702369dup, NC_000004.11:g.146702358_146702369dup, NC_000004.11:g.146702357_146702369dup, NC_000004.11:g.146702356_146702369dup, NC_000004.11:g.146702355_146702369dup, NC_000004.11:g.146702354_146702369dup, NC_000004.11:g.146702353_146702369dup, NC_000004.11:g.146702352_146702369dup, NC_000004.11:g.146702351_146702369dup, NC_000004.11:g.146702350_146702369dup, NC_000004.11:g.146702349_146702369dup, NC_000004.11:g.146702348_146702369dup, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702369_146702370insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.146702348_146702369A[56]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.146702348_146702369A[30]GAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915432823.

rs1491543282 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:145727923 (GRCh38)
4:146649076 (GRCh37)
Canonical SPDI:: NC_000004.12:145727923::T
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00031/5 (ALFA)
T=0.00045/41 (GnomAD)
HGVS:: NC_000004.12:g.145727923_145727924insT, NC_000004.11:g.146649075_146649076insT

Select item 14915137564.

rs1491513756 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:145724880 (GRCh38)
4:146646032 (GRCh37)
Canonical SPDI:: NC_000004.12:145724879:CA:
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.145724880_145724881del, NC_000004.11:g.146646032_146646033del

Select item 14914829105.

rs1491482910 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:145728021 (GRCh38)
4:146649173 (GRCh37)
Canonical SPDI:: NC_000004.12:145728020:AA:
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.145728021_145728022del, NC_000004.11:g.146649173_146649174del

Select item 14914525036.

rs1491452503 has merged into rs1174244412 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAAA [Show Flanks]
Chromosome:: 4:145727924 (GRCh38)
4:146649076 (GRCh37)
Canonical SPDI:: NC_000004.12:145727922:AAAA:A,NC_000004.12:145727922:AAAA:AA,NC_000004.12:145727922:AAAA:AAA,NC_000004.12:145727922:AAAA:AAAAAA
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.145727924_145727926del, NC_000004.12:g.145727925_145727926del, NC_000004.12:g.145727926del, NC_000004.12:g.145727925_145727926dup, NC_000004.11:g.146649076_146649078del, NC_000004.11:g.146649077_146649078del, NC_000004.11:g.146649078del, NC_000004.11:g.146649077_146649078dup

Select item 14914320727.

rs1491432072 [Homo sapiens]

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

Select item 14914288428.

rs1491428842 has merged into rs66860071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
Chromosome:: 4:145728062 (GRCh38)
4:146649214 (GRCh37)
Canonical SPDI:: NC_000004.12:145728047:ACACACACACACACACACACAC:ACACACACACACAC,NC_000004.12:145728047:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000004.12:145728047:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000004.12:145728047:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000004.12:145728047:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000004.12:145728047:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000004.12:145728047:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC
Gene:: C4orf51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
AC=0.04593/230 (1000Genomes)
-=0.10526/4 (GENOME_DK)
HGVS:: NC_000004.12:g.145728048AC[7], NC_000004.12:g.145728048AC[8], NC_000004.12:g.145728048AC[9], NC_000004.12:g.145728048AC[10], NC_000004.12:g.145728048AC[12], NC_000004.12:g.145728048AC[13], NC_000004.12:g.145728048AC[14], NC_000004.11:g.146649200AC[7], NC_000004.11:g.146649200AC[8], NC_000004.11:g.146649200AC[9], NC_000004.11:g.146649200AC[10], NC_000004.11:g.146649200AC[12], NC_000004.11:g.146649200AC[13], NC_000004.11:g.146649200AC[14]

Select item 14914021949.

rs1491402194 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:145728021 (GRCh38)
4:146649174 (GRCh37)
Canonical SPDI:: NC_000004.12:145728021::T
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.145728021_145728022insT, NC_000004.11:g.146649173_146649174insT

Select item 149139419410.

rs1491394194 has merged into rs372166578 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG [Show Flanks]
Chromosome:: 4:145687011 (GRCh38)
4:146608163 (GRCh37)
Canonical SPDI:: NC_000004.12:145687009:GCG:G,NC_000004.12:145687009:GCG:GCGCG
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.23989/3915 (ALFA)
-=0.100609/1684 (TOMMO)
-=0.171441/766 (Estonian)
-=0.203704/121 (NorthernSweden)
-=0.259681/1300 (1000Genomes)
-=0.263375/35867 (GnomAD)
-=0.264823/70096 (TOPMED)
-=0.3/12 (GENOME_DK)
GC=0.473948/473 (GoNL)
HGVS:: NC_000004.12:g.145687011_145687012del, NC_000004.12:g.145687011_145687012dup, NC_000004.11:g.146608163_146608164del, NC_000004.11:g.146608163_146608164dup

Select item 149137087411.

rs1491370874 has merged into rs398051305 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:145731574 (GRCh38)
4:146652726 (GRCh37)
Canonical SPDI:: NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145731564:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TT=0./0 (GENOME_DK)
HGVS:: NC_000004.12:g.145731574_145731597del, NC_000004.12:g.145731576_145731597del, NC_000004.12:g.145731577_145731597del, NC_000004.12:g.145731578_145731597del, NC_000004.12:g.145731579_145731597del, NC_000004.12:g.145731580_145731597del, NC_000004.12:g.145731581_145731597del, NC_000004.12:g.145731582_145731597del, NC_000004.12:g.145731583_145731597del, NC_000004.12:g.145731584_145731597del, NC_000004.12:g.145731585_145731597del, NC_000004.12:g.145731586_145731597del, NC_000004.12:g.145731587_145731597del, NC_000004.12:g.145731588_145731597del, NC_000004.12:g.145731589_145731597del, NC_000004.12:g.145731590_145731597del, NC_000004.12:g.145731591_145731597del, NC_000004.12:g.145731592_145731597del, NC_000004.12:g.145731593_145731597del, NC_000004.12:g.145731594_145731597del, NC_000004.12:g.145731595_145731597del, NC_000004.12:g.145731596_145731597del, NC_000004.12:g.145731597del, NC_000004.12:g.145731597dup, NC_000004.12:g.145731596_145731597dup, NC_000004.12:g.145731595_145731597dup, NC_000004.12:g.145731594_145731597dup, NC_000004.12:g.145731593_145731597dup, NC_000004.12:g.145731592_145731597dup, NC_000004.12:g.145731591_145731597dup, NC_000004.12:g.145731590_145731597dup, NC_000004.12:g.145731589_145731597dup, NC_000004.12:g.145731588_145731597dup, NC_000004.12:g.145731587_145731597dup, NC_000004.12:g.145731586_145731597dup, NC_000004.12:g.145731585_145731597dup, NC_000004.12:g.145731584_145731597dup, NC_000004.12:g.145731583_145731597dup, NC_000004.12:g.145731582_145731597dup, NC_000004.12:g.145731581_145731597dup, NC_000004.12:g.145731580_145731597dup, NC_000004.12:g.145731578_145731597dup, NC_000004.12:g.145731597_145731598insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146652726_146652749del, NC_000004.11:g.146652728_146652749del, NC_000004.11:g.146652729_146652749del, NC_000004.11:g.146652730_146652749del, NC_000004.11:g.146652731_146652749del, NC_000004.11:g.146652732_146652749del, NC_000004.11:g.146652733_146652749del, NC_000004.11:g.146652734_146652749del, NC_000004.11:g.146652735_146652749del, NC_000004.11:g.146652736_146652749del, NC_000004.11:g.146652737_146652749del, NC_000004.11:g.146652738_146652749del, NC_000004.11:g.146652739_146652749del, NC_000004.11:g.146652740_146652749del, NC_000004.11:g.146652741_146652749del, NC_000004.11:g.146652742_146652749del, NC_000004.11:g.146652743_146652749del, NC_000004.11:g.146652744_146652749del, NC_000004.11:g.146652745_146652749del, NC_000004.11:g.146652746_146652749del, NC_000004.11:g.146652747_146652749del, NC_000004.11:g.146652748_146652749del, NC_000004.11:g.146652749del, NC_000004.11:g.146652749dup, NC_000004.11:g.146652748_146652749dup, NC_000004.11:g.146652747_146652749dup, NC_000004.11:g.146652746_146652749dup, NC_000004.11:g.146652745_146652749dup, NC_000004.11:g.146652744_146652749dup, NC_000004.11:g.146652743_146652749dup, NC_000004.11:g.146652742_146652749dup, NC_000004.11:g.146652741_146652749dup, NC_000004.11:g.146652740_146652749dup, NC_000004.11:g.146652739_146652749dup, NC_000004.11:g.146652738_146652749dup, NC_000004.11:g.146652737_146652749dup, NC_000004.11:g.146652736_146652749dup, NC_000004.11:g.146652735_146652749dup, NC_000004.11:g.146652734_146652749dup, NC_000004.11:g.146652733_146652749dup, NC_000004.11:g.146652732_146652749dup, NC_000004.11:g.146652730_146652749dup, NC_000004.11:g.146652749_146652750insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149135528012.

rs1491355280 has merged into rs11299166 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:145721358 (GRCh38)
4:146642510 (GRCh37)
Canonical SPDI:: NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145721344:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3191/1598 (1000Genomes)
HGVS:: NC_000004.12:g.145721358_145721362del, NC_000004.12:g.145721359_145721362del, NC_000004.12:g.145721360_145721362del, NC_000004.12:g.145721361_145721362del, NC_000004.12:g.145721362del, NC_000004.12:g.145721362dup, NC_000004.12:g.145721361_145721362dup, NC_000004.12:g.145721359_145721362dup, NC_000004.12:g.145721355_145721362dup, NC_000004.11:g.146642510_146642514del, NC_000004.11:g.146642511_146642514del, NC_000004.11:g.146642512_146642514del, NC_000004.11:g.146642513_146642514del, NC_000004.11:g.146642514del, NC_000004.11:g.146642514dup, NC_000004.11:g.146642513_146642514dup, NC_000004.11:g.146642511_146642514dup, NC_000004.11:g.146642507_146642514dup

Select item 149135087213.

rs1491350872 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:145781195 (GRCh38)
4:146702347 (GRCh37)
Canonical SPDI:: NC_000004.12:145781194:CA:
Gene:: ZNF827 (Varview), C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00095/21 (TOMMO)
HGVS:: NC_000004.12:g.145781195_145781196del, NC_000004.11:g.146702347_146702348del

Select item 149129130014.

rs1491291300 [Homo sapiens]

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

Select item 149124612515.

rs1491246125 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:145745320 (GRCh38)
4:146666472 (GRCh37)
Canonical SPDI:: NC_000004.12:145745319:AT:
Gene:: C4orf51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.145745320_145745321del, NC_000004.11:g.146666472_146666473del

Select item 149121502816.

rs1491215028 has merged into rs141147414 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:145742542 (GRCh38)
4:146663694 (GRCh37)
Canonical SPDI:: NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145742532:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000004.12:g.145742542_145742557del, NC_000004.12:g.145742543_145742557del, NC_000004.12:g.145742544_145742557del, NC_000004.12:g.145742547_145742557del, NC_000004.12:g.145742548_145742557del, NC_000004.12:g.145742549_145742557del, NC_000004.12:g.145742550_145742557del, NC_000004.12:g.145742551_145742557del, NC_000004.12:g.145742552_145742557del, NC_000004.12:g.145742553_145742557del, NC_000004.12:g.145742554_145742557del, NC_000004.12:g.145742555_145742557del, NC_000004.12:g.145742556_145742557del, NC_000004.12:g.145742557del, NC_000004.12:g.145742557dup, NC_000004.12:g.145742556_145742557dup, NC_000004.12:g.145742555_145742557dup, NC_000004.12:g.145742554_145742557dup, NC_000004.12:g.145742553_145742557dup, NC_000004.12:g.145742552_145742557dup, NC_000004.12:g.145742551_145742557dup, NC_000004.12:g.145742550_145742557dup, NC_000004.12:g.145742549_145742557dup, NC_000004.12:g.145742548_145742557dup, NC_000004.12:g.145742547_145742557dup, NC_000004.12:g.145742546_145742557dup, NC_000004.12:g.145742545_145742557dup, NC_000004.12:g.145742544_145742557dup, NC_000004.12:g.145742543_145742557dup, NC_000004.12:g.145742542_145742557dup, NC_000004.12:g.145742541_145742557dup, NC_000004.12:g.145742540_145742557dup, NC_000004.12:g.145742533_145742557T[48]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.12:g.145742557_145742558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.145742557_145742558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.145742557_145742558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146663694_146663709del, NC_000004.11:g.146663695_146663709del, NC_000004.11:g.146663696_146663709del, NC_000004.11:g.146663699_146663709del, NC_000004.11:g.146663700_146663709del, NC_000004.11:g.146663701_146663709del, NC_000004.11:g.146663702_146663709del, NC_000004.11:g.146663703_146663709del, NC_000004.11:g.146663704_146663709del, NC_000004.11:g.146663705_146663709del, NC_000004.11:g.146663706_146663709del, NC_000004.11:g.146663707_146663709del, NC_000004.11:g.146663708_146663709del, NC_000004.11:g.146663709del, NC_000004.11:g.146663709dup, NC_000004.11:g.146663708_146663709dup, NC_000004.11:g.146663707_146663709dup, NC_000004.11:g.146663706_146663709dup, NC_000004.11:g.146663705_146663709dup, NC_000004.11:g.146663704_146663709dup, NC_000004.11:g.146663703_146663709dup, NC_000004.11:g.146663702_146663709dup, NC_000004.11:g.146663701_146663709dup, NC_000004.11:g.146663700_146663709dup, NC_000004.11:g.146663699_146663709dup, NC_000004.11:g.146663698_146663709dup, NC_000004.11:g.146663697_146663709dup, NC_000004.11:g.146663696_146663709dup, NC_000004.11:g.146663695_146663709dup, NC_000004.11:g.146663694_146663709dup, NC_000004.11:g.146663693_146663709dup, NC_000004.11:g.146663692_146663709dup, NC_000004.11:g.146663685_146663709T[48]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.146663709_146663710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146663709_146663710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146663709_146663710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149116355017.

rs1491163550 has merged into rs70956871 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 4:145749083 (GRCh38)
4:146670235 (GRCh37)
Canonical SPDI:: NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000004.12:145749065:TATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT
Gene:: C4orf51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATATATAT=0./0 (ALFA)
TA=0.02167/13 (NorthernSweden)
HGVS:: NC_000004.12:g.145749067AT[8], NC_000004.12:g.145749067AT[9], NC_000004.12:g.145749067AT[11], NC_000004.12:g.145749067AT[12], NC_000004.12:g.145749067AT[13], NC_000004.12:g.145749067AT[14], NC_000004.12:g.145749067AT[15], NC_000004.12:g.145749067AT[16], NC_000004.12:g.145749067AT[17], NC_000004.11:g.146670219AT[8], NC_000004.11:g.146670219AT[9], NC_000004.11:g.146670219AT[11], NC_000004.11:g.146670219AT[12], NC_000004.11:g.146670219AT[13], NC_000004.11:g.146670219AT[14], NC_000004.11:g.146670219AT[15], NC_000004.11:g.146670219AT[16], NC_000004.11:g.146670219AT[17]

Select item 149110425918.

rs1491104259 has merged into rs1222983724 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:145724888 (GRCh38)
4:146646040 (GRCh37)
Canonical SPDI:: NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:145724880:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.145724888_145724903del, NC_000004.12:g.145724890_145724903del, NC_000004.12:g.145724895_145724903del, NC_000004.12:g.145724896_145724903del, NC_000004.12:g.145724897_145724903del, NC_000004.12:g.145724898_145724903del, NC_000004.12:g.145724900_145724903del, NC_000004.12:g.145724901_145724903del, NC_000004.12:g.145724902_145724903del, NC_000004.12:g.145724903del, NC_000004.12:g.145724903dup, NC_000004.12:g.145724902_145724903dup, NC_000004.12:g.145724901_145724903dup, NC_000004.12:g.145724900_145724903dup, NC_000004.12:g.145724899_145724903dup, NC_000004.12:g.145724898_145724903dup, NC_000004.12:g.145724897_145724903dup, NC_000004.12:g.145724896_145724903dup, NC_000004.12:g.145724895_145724903dup, NC_000004.12:g.145724894_145724903dup, NC_000004.12:g.145724893_145724903dup, NC_000004.12:g.145724892_145724903dup, NC_000004.12:g.145724891_145724903dup, NC_000004.12:g.145724890_145724903dup, NC_000004.12:g.145724889_145724903dup, NC_000004.12:g.145724888_145724903dup, NC_000004.12:g.145724887_145724903dup, NC_000004.12:g.145724886_145724903dup, NC_000004.12:g.145724885_145724903dup, NC_000004.12:g.145724884_145724903dup, NC_000004.12:g.145724883_145724903dup, NC_000004.12:g.145724882_145724903dup, NC_000004.11:g.146646040_146646055del, NC_000004.11:g.146646042_146646055del, NC_000004.11:g.146646047_146646055del, NC_000004.11:g.146646048_146646055del, NC_000004.11:g.146646049_146646055del, NC_000004.11:g.146646050_146646055del, NC_000004.11:g.146646052_146646055del, NC_000004.11:g.146646053_146646055del, NC_000004.11:g.146646054_146646055del, NC_000004.11:g.146646055del, NC_000004.11:g.146646055dup, NC_000004.11:g.146646054_146646055dup, NC_000004.11:g.146646053_146646055dup, NC_000004.11:g.146646052_146646055dup, NC_000004.11:g.146646051_146646055dup, NC_000004.11:g.146646050_146646055dup, NC_000004.11:g.146646049_146646055dup, NC_000004.11:g.146646048_146646055dup, NC_000004.11:g.146646047_146646055dup, NC_000004.11:g.146646046_146646055dup, NC_000004.11:g.146646045_146646055dup, NC_000004.11:g.146646044_146646055dup, NC_000004.11:g.146646043_146646055dup, NC_000004.11:g.146646042_146646055dup, NC_000004.11:g.146646041_146646055dup, NC_000004.11:g.146646040_146646055dup, NC_000004.11:g.146646039_146646055dup, NC_000004.11:g.146646038_146646055dup, NC_000004.11:g.146646037_146646055dup, NC_000004.11:g.146646036_146646055dup, NC_000004.11:g.146646035_146646055dup, NC_000004.11:g.146646034_146646055dup

Select item 149106727819.

rs1491067278 has merged into rs55700691 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:145750425 (GRCh38)
4:146671577 (GRCh37)
Canonical SPDI:: NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:145750412:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C4orf51 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.1747/875 (1000Genomes)
HGVS:: NC_000004.12:g.145750425_145750434del, NC_000004.12:g.145750426_145750434del, NC_000004.12:g.145750427_145750434del, NC_000004.12:g.145750430_145750434del, NC_000004.12:g.145750431_145750434del, NC_000004.12:g.145750432_145750434del, NC_000004.12:g.145750433_145750434del, NC_000004.12:g.145750434del, NC_000004.12:g.145750434dup, NC_000004.12:g.145750432_145750434dup, NC_000004.12:g.145750431_145750434dup, NC_000004.12:g.145750430_145750434dup, NC_000004.12:g.145750429_145750434dup, NC_000004.12:g.145750428_145750434dup, NC_000004.12:g.145750427_145750434dup, NC_000004.12:g.145750434_145750435insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.145750434_145750435insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.145750434_145750435insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.145750434_145750435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146671577_146671586del, NC_000004.11:g.146671578_146671586del, NC_000004.11:g.146671579_146671586del, NC_000004.11:g.146671582_146671586del, NC_000004.11:g.146671583_146671586del, NC_000004.11:g.146671584_146671586del, NC_000004.11:g.146671585_146671586del, NC_000004.11:g.146671586del, NC_000004.11:g.146671586dup, NC_000004.11:g.146671584_146671586dup, NC_000004.11:g.146671583_146671586dup, NC_000004.11:g.146671582_146671586dup, NC_000004.11:g.146671581_146671586dup, NC_000004.11:g.146671580_146671586dup, NC_000004.11:g.146671579_146671586dup, NC_000004.11:g.146671586_146671587insTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146671586_146671587insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146671586_146671587insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.146671586_146671587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149106255620.

rs1491062556 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:145745337 (GRCh38)
4:146666489 (GRCh37)
Canonical SPDI:: NC_000004.12:145745336:TG:
Gene:: C4orf51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004809/78 (ALFA)
-=0.00144/161 (GnomAD)
HGVS:: NC_000004.12:g.145745337_145745338del, NC_000004.11:g.146666489_146666490del

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