SNP Links for Gene (Select 100289678) - SNP

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Select item 14915392271.

rs1491539227 has merged into rs58356707 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 7:149261223 (GRCh38)
7:148958314 (GRCh37)
Canonical SPDI:: NC_000007.14:149261214:CCCCCCCCCCCC:CCCCCCCC,NC_000007.14:149261214:CCCCCCCCCCCC:CCCCCCCCC,NC_000007.14:149261214:CCCCCCCCCCCC:CCCCCCCCCC,NC_000007.14:149261214:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000007.14:149261214:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000007.14:149261214:CCCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000007.14:g.149261223_149261226del, NC_000007.14:g.149261224_149261226del, NC_000007.14:g.149261225_149261226del, NC_000007.14:g.149261226del, NC_000007.14:g.149261226dup, NC_000007.14:g.149261225_149261226dup, NC_000007.13:g.148958314_148958317del, NC_000007.13:g.148958315_148958317del, NC_000007.13:g.148958316_148958317del, NC_000007.13:g.148958317del, NC_000007.13:g.148958317dup, NC_000007.13:g.148958316_148958317dup

Select item 14914969542.

rs1491496954 has merged into rs34630774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 7:149261635 (GRCh38)
7:148958726 (GRCh37)
Canonical SPDI:: NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:149261624:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.4558/258 (NorthernSweden)
AA=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.149261635_149261640del, NC_000007.14:g.149261636_149261640del, NC_000007.14:g.149261638_149261640del, NC_000007.14:g.149261639_149261640del, NC_000007.14:g.149261640del, NC_000007.14:g.149261640dup, NC_000007.14:g.149261639_149261640dup, NC_000007.14:g.149261638_149261640dup, NC_000007.13:g.148958726_148958731del, NC_000007.13:g.148958727_148958731del, NC_000007.13:g.148958729_148958731del, NC_000007.13:g.148958730_148958731del, NC_000007.13:g.148958731del, NC_000007.13:g.148958731dup, NC_000007.13:g.148958730_148958731dup, NC_000007.13:g.148958729_148958731dup

Select item 14914691543.

rs1491469154 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATATATTT,ATATATATATATTT,ATATATATATT,ATATATATATTT,ATATATATTT,ATATATATTTTT,ATATATT,ATATATTT,ATATATTTTT,ATATT,ATATTT,ATT,ATTT [Show Flanks]
Chromosome:: 7:149263324 (GRCh38)
7:148960416 (GRCh37)
Canonical SPDI:: NC_000007.14:149263324:T:TATATATATATATATTT,NC_000007.14:149263324:T:TATATATATATATTT,NC_000007.14:149263324:T:TATATATATATT,NC_000007.14:149263324:T:TATATATATATTT,NC_000007.14:149263324:T:TATATATATTT,NC_000007.14:149263324:T:TATATATATTTTT,NC_000007.14:149263324:T:TATATATT,NC_000007.14:149263324:T:TATATATTT,NC_000007.14:149263324:T:TATATATTTTT,NC_000007.14:149263324:T:TATATT,NC_000007.14:149263324:T:TATATTT,NC_000007.14:149263324:T:TATT,NC_000007.14:149263324:T:TATTT
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATTT=0./0 (ALFA)
TATT=0.00078/13 (TOMMO)
HGVS:: NC_000007.14:g.149263325TA[7]TTT[1], NC_000007.14:g.149263325TA[6]TTT[1], NC_000007.14:g.149263325TA[5]TT[1], NC_000007.14:g.149263325TA[5]TTT[1], NC_000007.14:g.149263325TA[4]TTT[1], NC_000007.14:g.149263325TA[4]T[5], NC_000007.14:g.149263325TA[3]TT[1], NC_000007.14:g.149263325TA[3]TTT[1], NC_000007.14:g.149263325TA[3]T[5], NC_000007.14:g.149263325TA[2]TT[1], NC_000007.14:g.149263325TA[2]TTT[1], NC_000007.14:g.149263325_149263326insATT, NC_000007.14:g.149263325_149263326insATTT, NC_000007.13:g.148960416TA[7]TTT[1], NC_000007.13:g.148960416TA[6]TTT[1], NC_000007.13:g.148960416TA[5]TT[1], NC_000007.13:g.148960416TA[5]TTT[1], NC_000007.13:g.148960416TA[4]TTT[1], NC_000007.13:g.148960416TA[4]T[5], NC_000007.13:g.148960416TA[3]TT[1], NC_000007.13:g.148960416TA[3]TTT[1], NC_000007.13:g.148960416TA[3]T[5], NC_000007.13:g.148960416TA[2]TT[1], NC_000007.13:g.148960416TA[2]TTT[1], NC_000007.13:g.148960416_148960417insATT, NC_000007.13:g.148960416_148960417insATTT, XM_047419692.1:c.-1675TA[7]TTT[1], XM_047419692.1:c.-1675TA[6]TTT[1], XM_047419692.1:c.-1675TA[5]TT[1], XM_047419692.1:c.-1675TA[5]TTT[1], XM_047419692.1:c.-1675TA[4]TTT[1], XM_047419692.1:c.-1675TA[4]T[5], XM_047419692.1:c.-1675TA[3]TT[1], XM_047419692.1:c.-1675TA[3]TTT[1], XM_047419692.1:c.-1675TA[3]T[5], XM_047419692.1:c.-1675TA[2]TT[1], XM_047419692.1:c.-1675TA[2]TTT[1], XM_047419692.1:c.-1675_-1674insATT, XM_047419692.1:c.-1675_-1674insATTT

Select item 14914165664.

rs1491416566 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:149261624 (GRCh38)
7:148958715 (GRCh37)
Canonical SPDI:: NC_000007.14:149261623:GA:
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000007.14:g.149261624_149261625del, NC_000007.13:g.148958715_148958716del

Select item 14913660235.

rs1491366023 has merged into rs1210367064 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 7:149263331 (GRCh38)
7:148960422 (GRCh37)
Canonical SPDI:: NC_000007.14:149263324:TTTTTTTTTT:TTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:149263324:TTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
TTTTTTT=0.000004/1 (TOPMED)
TT=0.010135/6 (NorthernSweden)
HGVS:: NC_000007.14:g.149263331_149263334del, NC_000007.14:g.149263332_149263334del, NC_000007.14:g.149263333_149263334del, NC_000007.14:g.149263334del, NC_000007.14:g.149263334dup, NC_000007.14:g.149263333_149263334dup, NC_000007.14:g.149263332_149263334dup, NC_000007.14:g.149263331_149263334dup, NC_000007.14:g.149263330_149263334dup, NC_000007.14:g.149263329_149263334dup, NC_000007.14:g.149263328_149263334dup, NC_000007.13:g.148960422_148960425del, NC_000007.13:g.148960423_148960425del, NC_000007.13:g.148960424_148960425del, NC_000007.13:g.148960425del, NC_000007.13:g.148960425dup, NC_000007.13:g.148960424_148960425dup, NC_000007.13:g.148960423_148960425dup, NC_000007.13:g.148960422_148960425dup, NC_000007.13:g.148960421_148960425dup, NC_000007.13:g.148960420_148960425dup, NC_000007.13:g.148960419_148960425dup, XM_047419692.1:c.-1669_-1666del, XM_047419692.1:c.-1668_-1666del, XM_047419692.1:c.-1667_-1666del, XM_047419692.1:c.-1666del, XM_047419692.1:c.-1666dup, XM_047419692.1:c.-1667_-1666dup, XM_047419692.1:c.-1668_-1666dup, XM_047419692.1:c.-1669_-1666dup, XM_047419692.1:c.-1670_-1666dup, XM_047419692.1:c.-1671_-1666dup, XM_047419692.1:c.-1672_-1666dup

Select item 14912840156.

rs1491284015 has merged into rs1361556335 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:149261227 (GRCh38)
7:148958318 (GRCh37)
Canonical SPDI:: NC_000007.14:149261226:AAAAAA:AAAAA,NC_000007.14:149261226:AAAAAA:AAAAAAA
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000047/5 (GnomAD)
HGVS:: NC_000007.14:g.149261232del, NC_000007.14:g.149261232dup, NC_000007.13:g.148958323del, NC_000007.13:g.148958323dup

Select item 14912830537.

rs1491283053 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:149279633 (GRCh38)
7:148976725 (GRCh37)
Canonical SPDI:: NC_000007.14:149279633::G
Gene:: ZNF783 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.149279633_149279634insG, NC_000007.13:g.148976724_148976725insG

Select item 14912126238.

rs1491212623 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA [Show Flanks]
Chromosome:: 7:149263325 (GRCh38)
7:148960417 (GRCh37)
Canonical SPDI:: NC_000007.14:149263325::A,NC_000007.14:149263325::ATA,NC_000007.14:149263325::ATATA
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00055/1 (Korea1K)
HGVS:: NC_000007.14:g.149263325_149263326insA, NC_000007.14:g.149263325_149263326insATA, NC_000007.14:g.149263325_149263326insATATA, NC_000007.13:g.148960416_148960417insA, NC_000007.13:g.148960416_148960417insATA, NC_000007.13:g.148960416_148960417insATATA, XM_047419692.1:c.-1675_-1674insA, XM_047419692.1:c.-1675_-1674insATA, XM_047419692.1:c.-1675_-1674insATATA

Select item 14911734709.

rs1491173470 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 7:149263265 (GRCh38)
7:148960357 (GRCh37)
Canonical SPDI:: NC_000007.14:149263265::TT
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000007.14:g.149263265_149263266insTT, NC_000007.13:g.148960356_148960357insTT, XM_047419692.1:c.-1735_-1734insTT

Select item 149117338810.

rs1491173388 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:149261226 (GRCh38)
7:148958317 (GRCh37)
Canonical SPDI:: NC_000007.14:149261225:CA:
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.149261226_149261227del, NC_000007.13:g.148958317_148958318del

Select item 149107654511.

rs1491076545 has merged into rs57927274 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:149282966 (GRCh38)
7:148980057 (GRCh37)
Canonical SPDI:: NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:149282957:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF783 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTT=0.1/4 (GENOME_DK)
HGVS:: NC_000007.14:g.149282966_149282967del, NC_000007.14:g.149282967del, NC_000007.14:g.149282967dup, NC_000007.14:g.149282966_149282967dup, NC_000007.14:g.149282965_149282967dup, NC_000007.14:g.149282964_149282967dup, NC_000007.14:g.149282963_149282967dup, NC_000007.14:g.149282962_149282967dup, NC_000007.14:g.149282961_149282967dup, NC_000007.14:g.149282960_149282967dup, NC_000007.14:g.149282959_149282967dup, NC_000007.14:g.149282958_149282967dup, NC_000007.14:g.149282967_149282968insTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.149282967_149282968insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980057_148980058del, NC_000007.13:g.148980058del, NC_000007.13:g.148980058dup, NC_000007.13:g.148980057_148980058dup, NC_000007.13:g.148980056_148980058dup, NC_000007.13:g.148980055_148980058dup, NC_000007.13:g.148980054_148980058dup, NC_000007.13:g.148980053_148980058dup, NC_000007.13:g.148980052_148980058dup, NC_000007.13:g.148980051_148980058dup, NC_000007.13:g.148980050_148980058dup, NC_000007.13:g.148980049_148980058dup, NC_000007.13:g.148980058_148980059insTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.148980058_148980059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*623_*624del, XM_011515701.3:c.*624del, XM_011515701.3:c.*624dup, XM_011515701.3:c.*623_*624dup, XM_011515701.3:c.*622_*624dup, XM_011515701.3:c.*621_*624dup, XM_011515701.3:c.*620_*624dup, XM_011515701.3:c.*619_*624dup, XM_011515701.3:c.*618_*624dup, XM_011515701.3:c.*617_*624dup, XM_011515701.3:c.*616_*624dup, XM_011515701.3:c.*615_*624dup, XM_011515701.3:c.*624_*625insTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.3:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*623_*624del, XM_011515701.2:c.*624del, XM_011515701.2:c.*624dup, XM_011515701.2:c.*623_*624dup, XM_011515701.2:c.*622_*624dup, XM_011515701.2:c.*621_*624dup, XM_011515701.2:c.*620_*624dup, XM_011515701.2:c.*619_*624dup, XM_011515701.2:c.*618_*624dup, XM_011515701.2:c.*617_*624dup, XM_011515701.2:c.*616_*624dup, XM_011515701.2:c.*615_*624dup, XM_011515701.2:c.*624_*625insTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*623_*624del, XM_011515701.1:c.*624del, XM_011515701.1:c.*624dup, XM_011515701.1:c.*623_*624dup, XM_011515701.1:c.*622_*624dup, XM_011515701.1:c.*621_*624dup, XM_011515701.1:c.*620_*624dup, XM_011515701.1:c.*619_*624dup, XM_011515701.1:c.*618_*624dup, XM_011515701.1:c.*617_*624dup, XM_011515701.1:c.*616_*624dup, XM_011515701.1:c.*615_*624dup, XM_011515701.1:c.*624_*625insTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011515701.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2515_2516del, NR_144366.2:n.2516del, NR_144366.2:n.2516dup, NR_144366.2:n.2515_2516dup, NR_144366.2:n.2514_2516dup, NR_144366.2:n.2513_2516dup, NR_144366.2:n.2512_2516dup, NR_144366.2:n.2511_2516dup, NR_144366.2:n.2510_2516dup, NR_144366.2:n.2509_2516dup, NR_144366.2:n.2508_2516dup, NR_144366.2:n.2507_2516dup, NR_144366.2:n.2516_2517insTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.2:n.2516_2517insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2540_2541del, NR_144366.1:n.2541del, NR_144366.1:n.2541dup, NR_144366.1:n.2540_2541dup, NR_144366.1:n.2539_2541dup, NR_144366.1:n.2538_2541dup, NR_144366.1:n.2537_2541dup, NR_144366.1:n.2536_2541dup, NR_144366.1:n.2535_2541dup, NR_144366.1:n.2534_2541dup, NR_144366.1:n.2533_2541dup, NR_144366.1:n.2532_2541dup, NR_144366.1:n.2541_2542insTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_144366.1:n.2541_2542insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*623_*624del, NM_001004302.2:c.*624del, NM_001004302.2:c.*624dup, NM_001004302.2:c.*623_*624dup, NM_001004302.2:c.*622_*624dup, NM_001004302.2:c.*621_*624dup, NM_001004302.2:c.*620_*624dup, NM_001004302.2:c.*619_*624dup, NM_001004302.2:c.*618_*624dup, NM_001004302.2:c.*617_*624dup, NM_001004302.2:c.*616_*624dup, NM_001004302.2:c.*615_*624dup, NM_001004302.2:c.*624_*625insTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001004302.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*623_*624del, NM_001195220.2:c.*624del, NM_001195220.2:c.*624dup, NM_001195220.2:c.*623_*624dup, NM_001195220.2:c.*622_*624dup, NM_001195220.2:c.*621_*624dup, NM_001195220.2:c.*620_*624dup, NM_001195220.2:c.*619_*624dup, NM_001195220.2:c.*618_*624dup, NM_001195220.2:c.*617_*624dup, NM_001195220.2:c.*616_*624dup, NM_001195220.2:c.*615_*624dup, NM_001195220.2:c.*624_*625insTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.2:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*623_*624del, NM_001195220.1:c.*624del, NM_001195220.1:c.*624dup, NM_001195220.1:c.*623_*624dup, NM_001195220.1:c.*622_*624dup, NM_001195220.1:c.*621_*624dup, NM_001195220.1:c.*620_*624dup, NM_001195220.1:c.*619_*624dup, NM_001195220.1:c.*618_*624dup, NM_001195220.1:c.*617_*624dup, NM_001195220.1:c.*616_*624dup, NM_001195220.1:c.*615_*624dup, NM_001195220.1:c.*624_*625insTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001195220.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*623_*624del, XM_047419692.1:c.*624del, XM_047419692.1:c.*624dup, XM_047419692.1:c.*623_*624dup, XM_047419692.1:c.*622_*624dup, XM_047419692.1:c.*621_*624dup, XM_047419692.1:c.*620_*624dup, XM_047419692.1:c.*619_*624dup, XM_047419692.1:c.*618_*624dup, XM_047419692.1:c.*617_*624dup, XM_047419692.1:c.*616_*624dup, XM_047419692.1:c.*615_*624dup, XM_047419692.1:c.*624_*625insTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047419692.1:c.*624_*625insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2449_2450del, NR_144367.1:n.2450del, NR_144367.1:n.2450dup, NR_144367.1:n.2449_2450dup, NR_144367.1:n.2448_2450dup, NR_144367.1:n.2447_2450dup, NR_144367.1:n.2446_2450dup, NR_144367.1:n.2445_2450dup, NR_144367.1:n.2444_2450dup, NR_144367.1:n.2443_2450dup, NR_144367.1:n.2442_2450dup, NR_144367.1:n.2441_2450dup, NR_144367.1:n.2450_2451insTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_144367.1:n.2450_2451insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149100775812.

rs1491007758 has merged into rs530194671 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:149277752 (GRCh38)
7:148974843 (GRCh37)
Canonical SPDI:: NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:149277738:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF783 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.11462/574 (1000Genomes)
HGVS:: NC_000007.14:g.149277752_149277755del, NC_000007.14:g.149277753_149277755del, NC_000007.14:g.149277754_149277755del, NC_000007.14:g.149277755del, NC_000007.14:g.149277755dup, NC_000007.14:g.149277754_149277755dup, NC_000007.14:g.149277753_149277755dup, NC_000007.14:g.149277752_149277755dup, NC_000007.13:g.148974843_148974846del, NC_000007.13:g.148974844_148974846del, NC_000007.13:g.148974845_148974846del, NC_000007.13:g.148974846del, NC_000007.13:g.148974846dup, NC_000007.13:g.148974845_148974846dup, NC_000007.13:g.148974844_148974846dup, NC_000007.13:g.148974843_148974846dup

Select item 149082135313.

rs1490821353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:149275459 (GRCh38)
7:148972550 (GRCh37)
Canonical SPDI:: NC_000007.14:149275458:C:A
Gene:: ZNF783 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.149275459C>A, NC_000007.13:g.148972550C>A

Select item 149077768214.

rs1490777682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149282048 (GRCh38)
7:148979139 (GRCh37)
Canonical SPDI:: NC_000007.14:149282047:A:G
Gene:: ZNF783 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.149282048A>G, NC_000007.13:g.148979139A>G, XM_011515701.3:c.1379A>G, XM_011515701.2:c.1379A>G, XM_011515701.1:c.1379A>G, NR_144366.2:n.1597A>G, NR_144366.1:n.1622A>G, NM_001004302.2:c.1346A>G, NM_001195220.2:c.1346A>G, NM_001195220.1:c.1346A>G, XM_047419692.1:c.833A>G, NR_144367.1:n.1531A>G, XP_011514003.1:p.Lys460Arg, NP_001182149.1:p.Lys449Arg, XP_047275648.1:p.Lys278Arg

Select item 149071692615.

rs1490716926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:149262504 (GRCh38)
7:148959595 (GRCh37)
Canonical SPDI:: NC_000007.14:149262503:C:T
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.149262504C>T, NC_000007.13:g.148959595C>T, XM_047419692.1:c.-2496C>T

Select item 149024313916.

rs1490243139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:149280342 (GRCh38)
7:148977433 (GRCh37)
Canonical SPDI:: NC_000007.14:149280341:G:A
Gene:: ZNF783 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.149280342G>A, NC_000007.13:g.148977433G>A

Select item 149021578617.

rs1490215786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:149266996 (GRCh38)
7:148964087 (GRCh37)
Canonical SPDI:: NC_000007.14:149266995:A:G
Gene:: ZNF783 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.149266996A>G, NC_000007.13:g.148964087A>G

Select item 149011297418.

rs1490112974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:149261577 (GRCh38)
7:148958668 (GRCh37)
Canonical SPDI:: NC_000007.14:149261576:G:A
Gene:: ZNF783 (Varview), LOC124901769 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.149261577G>A, NC_000007.13:g.148958668G>A

Select item 149000299619.

rs1490002996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:149275050 (GRCh38)
7:148972141 (GRCh37)
Canonical SPDI:: NC_000007.14:149275049:T:G
Gene:: ZNF783 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.149275050T>G, NC_000007.13:g.148972141T>G

Select item 148992953920.

rs1489929539 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:149281572 (GRCh38)
7:148978663 (GRCh37)
Canonical SPDI:: NC_000007.14:149281571:GGGGG:GGGG
Gene:: ZNF783 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000007.14:g.149281576del, NC_000007.13:g.148978667del, XM_011515701.3:c.907del, XM_011515701.2:c.907del, XM_011515701.1:c.907del, NR_144366.2:n.1125del, NR_144366.1:n.1150del, NM_001004302.2:c.874del, NM_001195220.2:c.874del, NM_001195220.1:c.874del, XM_047419692.1:c.361del, NR_144367.1:n.1059del, XP_011514003.1:p.Val303fs, NP_001182149.1:p.Val292fs, XP_047275648.1:p.Val121fs

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