SNP Links for Gene (Select 101930028) - SNP

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Select item 14915842561.

rs1491584256 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:188811506 (GRCh38)
4:189732660 (GRCh37)
Canonical SPDI:: NC_000004.12:188811505:AA:
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000049/5 (GnomAD)
HGVS:: NC_000004.12:g.188811506_188811507del, NC_000004.11:g.189732660_189732661del

Select item 14915684312.

rs1491568431 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATTATTATATAATATAATTATATAATAT [Show Flanks]
Chromosome:: 4:188811712 (GRCh38)
4:189732867 (GRCh37)
Canonical SPDI:: NC_000004.12:188811712:ATATATATTATTATATAATATAATTATATAATAT:ATATATATTATTATATAATATAATTATATAATATATATTATTATATAATATAATTATATAATAT
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: ATATATATTATTATATAATATAATTATATA=0.000028/3 (GnomAD)
HGVS:: NC_000004.12:g.188811717_188811746dup, NC_000004.11:g.189732871_189732900dup

Select item 14915661373.

rs1491566137 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:188801520 (GRCh38)
4:189722674 (GRCh37)
Canonical SPDI:: NC_000004.12:188801517:ATAT:AT
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000253/3 (ALFA)
-=0.000219/27 (GnomAD)
-=0.000248/4 (TOMMO)
HGVS:: NC_000004.12:g.188801518AT[1], NC_000004.11:g.189722672AT[1]

Select item 14915504114.

rs1491550411 has merged into rs3074327 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:188773295 (GRCh38)
4:189694449 (GRCh37)
Canonical SPDI:: NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:188773282:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC101930028 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3254/1254 (ALSPAC)
HGVS:: NC_000004.12:g.188773295_188773305del, NC_000004.12:g.188773299_188773305del, NC_000004.12:g.188773300_188773305del, NC_000004.12:g.188773301_188773305del, NC_000004.12:g.188773302_188773305del, NC_000004.12:g.188773303_188773305del, NC_000004.12:g.188773304_188773305del, NC_000004.12:g.188773305del, NC_000004.12:g.188773305dup, NC_000004.12:g.188773304_188773305dup, NC_000004.12:g.188773303_188773305dup, NC_000004.12:g.188773302_188773305dup, NC_000004.12:g.188773301_188773305dup, NC_000004.12:g.188773300_188773305dup, NC_000004.12:g.188773294_188773305dup, NC_000004.12:g.188773290_188773305dup, NC_000004.12:g.188773305_188773306insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.188773305_188773306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.188773283_188773305T[73]CTGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.189694449_189694459del, NC_000004.11:g.189694453_189694459del, NC_000004.11:g.189694454_189694459del, NC_000004.11:g.189694455_189694459del, NC_000004.11:g.189694456_189694459del, NC_000004.11:g.189694457_189694459del, NC_000004.11:g.189694458_189694459del, NC_000004.11:g.189694459del, NC_000004.11:g.189694459dup, NC_000004.11:g.189694458_189694459dup, NC_000004.11:g.189694457_189694459dup, NC_000004.11:g.189694456_189694459dup, NC_000004.11:g.189694455_189694459dup, NC_000004.11:g.189694454_189694459dup, NC_000004.11:g.189694448_189694459dup, NC_000004.11:g.189694444_189694459dup, NC_000004.11:g.189694459_189694460insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.189694459_189694460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.189694437_189694459T[73]CTGTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14913966745.

rs1491396674 has merged into rs71596897 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:188817798 (GRCh38)
4:189738952 (GRCh37)
Canonical SPDI:: NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188817787:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1264/633 (1000Genomes)
HGVS:: NC_000004.12:g.188817798_188817805del, NC_000004.12:g.188817800_188817805del, NC_000004.12:g.188817802_188817805del, NC_000004.12:g.188817803_188817805del, NC_000004.12:g.188817804_188817805del, NC_000004.12:g.188817805del, NC_000004.12:g.188817805dup, NC_000004.12:g.188817804_188817805dup, NC_000004.12:g.188817803_188817805dup, NC_000004.12:g.188817802_188817805dup, NC_000004.12:g.188817801_188817805dup, NC_000004.12:g.188817800_188817805dup, NC_000004.12:g.188817799_188817805dup, NC_000004.12:g.188817798_188817805dup, NC_000004.12:g.188817797_188817805dup, NC_000004.12:g.188817792_188817805dup, NC_000004.12:g.188817805_188817806insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.188817788_188817805A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.188817788_188817805A[23]TAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.189738952_189738959del, NC_000004.11:g.189738954_189738959del, NC_000004.11:g.189738956_189738959del, NC_000004.11:g.189738957_189738959del, NC_000004.11:g.189738958_189738959del, NC_000004.11:g.189738959del, NC_000004.11:g.189738959dup, NC_000004.11:g.189738958_189738959dup, NC_000004.11:g.189738957_189738959dup, NC_000004.11:g.189738956_189738959dup, NC_000004.11:g.189738955_189738959dup, NC_000004.11:g.189738954_189738959dup, NC_000004.11:g.189738953_189738959dup, NC_000004.11:g.189738952_189738959dup, NC_000004.11:g.189738951_189738959dup, NC_000004.11:g.189738946_189738959dup, NC_000004.11:g.189738959_189738960insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.189738942_189738959A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.189738942_189738959A[23]TAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913653676.

rs1491365367 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:188780081 (GRCh38)
4:189701235 (GRCh37)
Canonical SPDI:: NC_000004.12:188780080:CA:
Gene:: LOC101930028 (Varview), LINC02508 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000004.12:g.188780081_188780082del, NC_000004.11:g.189701235_189701236del

Select item 14913618657.

rs1491361865 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTAATAATACATATTATAATTAATAATATATAATTAATAATATATA,ATTAATAATATATA,ATTAATAATATATAATTAATAATATATA [Show Flanks]
Chromosome:: 4:188811531 (GRCh38)
4:189732686 (GRCh37)
Canonical SPDI:: NC_000004.12:188811531:TATAATTAATAATATATA:TATAATTAATAATATATAATTAATAATACATATTATAATTAATAATATATAATTAATAATATATA,NC_000004.12:188811531:TATAATTAATAATATATA:TATAATTAATAATATATAATTAATAATATATA,NC_000004.12:188811531:TATAATTAATAATATATA:TATAATTAATAATATATAATTAATAATATATAATTAATAATATATA
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAATTAATAATATATAATTAATAATATATA=0./0 (ALFA)
TATAATTAATAATA=0.00007/2 (TOMMO)
HGVS:: NC_000004.12:g.188811532_188811549TATAATTAATAATA[2]CATATTATAATTAATAATATATAATTAATAATATATA[1], NC_000004.12:g.188811536_188811549dup, NC_000004.12:g.188811536ATTAATAATATATA[3], NC_000004.11:g.189732686_189732703TATAATTAATAATA[2]CATATTATAATTAATAATATATAATTAATAATATATA[1], NC_000004.11:g.189732690_189732703dup, NC_000004.11:g.189732690ATTAATAATATATA[3]

Select item 14913485148.

rs1491348514 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:188786401 (GRCh38)
4:189707555 (GRCh37)
Canonical SPDI:: NC_000004.12:188786400:CA:
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.188786401_188786402del, NC_000004.11:g.189707555_189707556del

Select item 14913482269.

rs1491348226 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:188811506 (GRCh38)
4:189732661 (GRCh37)
Canonical SPDI:: NC_000004.12:188811506::T
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.127972/1518 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.188811506_188811507insT, NC_000004.11:g.189732660_189732661insT

Select item 149134313510.

rs1491343135 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:188768997 (GRCh38)
4:189690151 (GRCh37)
Canonical SPDI:: NC_000004.12:188768996:TA:
Gene:: LOC101930028 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00042/5 (ALFA)
-=0.00135/78 (GnomAD)
-=0.00188/27 (TOMMO)
HGVS:: NC_000004.12:g.188768997_188768998del, NC_000004.11:g.189690151_189690152del

Select item 149133829311.

rs1491338293 has merged into rs1269854253 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 4:188811602 (GRCh38)
4:189732756 (GRCh37)
Canonical SPDI:: NC_000004.12:188811594:ATATATATA:ATATATA,NC_000004.12:188811594:ATATATATA:ATATATATATA
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.188811596TA[3], NC_000004.12:g.188811596TA[5], NC_000004.11:g.189732750TA[3], NC_000004.11:g.189732750TA[5]

Select item 149131606712.

rs1491316067 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:188811531 (GRCh38)
4:189732685 (GRCh37)
Canonical SPDI:: NC_000004.12:188811530:TT:
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00013/3 (GnomAD)
HGVS:: NC_000004.12:g.188811531_188811532del, NC_000004.11:g.189732685_189732686del

Select item 149128660113.

rs1491286601 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA,TTAA,TTTAA,TTTTA,TTTTAA,TTTTTTTTA [Show Flanks]
Chromosome:: 4:188768997 (GRCh38)
4:189690152 (GRCh37)
Canonical SPDI:: NC_000004.12:188768997::TA,NC_000004.12:188768997::TTA,NC_000004.12:188768997::TTAA,NC_000004.12:188768997::TTTAA,NC_000004.12:188768997::TTTTA,NC_000004.12:188768997::TTTTAA,NC_000004.12:188768997::TTTTTTTTA
Gene:: LOC101930028 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000004.12:g.188768997_188768998insTA, NC_000004.12:g.188768997_188768998insTTA, NC_000004.12:g.188768997_188768998insTTAA, NC_000004.12:g.188768997_188768998insTTTAA, NC_000004.12:g.188768997_188768998insTTTTA, NC_000004.12:g.188768997_188768998insTTTTAA, NC_000004.12:g.188768997_188768998insTTTTTTTTA, NC_000004.11:g.189690151_189690152insTA, NC_000004.11:g.189690151_189690152insTTA, NC_000004.11:g.189690151_189690152insTTAA, NC_000004.11:g.189690151_189690152insTTTAA, NC_000004.11:g.189690151_189690152insTTTTA, NC_000004.11:g.189690151_189690152insTTTTAA, NC_000004.11:g.189690151_189690152insTTTTTTTTA

Select item 149125777814.

rs1491257778 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT [Show Flanks]
Chromosome:: 4:188811717 (GRCh38)
4:189732871 (GRCh37)
Canonical SPDI:: NC_000004.12:188811711:TATATATAT:TATAT,NC_000004.12:188811711:TATATATAT:TATATAT
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0./0 (ALFA)
HGVS:: NC_000004.12:g.188811713AT[2], NC_000004.12:g.188811713AT[3], NC_000004.11:g.189732867AT[2], NC_000004.11:g.189732867AT[3]

Select item 149122828215.

rs1491228282 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 4:188817788 (GRCh38)
4:189738943 (GRCh37)
Canonical SPDI:: NC_000004.12:188817788:AA:AACAA
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AACAA=0./0 (ALFA)
AAC=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.188817790_188817791insCAA, NC_000004.11:g.189738944_189738945insCAA

Select item 149120419816.

rs1491204198 has merged into rs1304430510 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 4:188811485 (GRCh38)
4:189732639 (GRCh37)
Canonical SPDI:: NC_000004.12:188811475:ATATATATATA:ATATATATA,NC_000004.12:188811475:ATATATATATA:ATATATATATATA
Gene:: LOC101930028 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
HGVS:: NC_000004.12:g.188811477TA[4], NC_000004.12:g.188811477TA[6], NC_000004.11:g.189732631TA[4], NC_000004.11:g.189732631TA[6]

Select item 149118221517.

rs1491182215 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:188811594 (GRCh38)
4:189732748 (GRCh37)
Canonical SPDI:: NC_000004.12:188811593:AA:
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.188811594_188811595del, NC_000004.11:g.189732748_189732749del

Select item 149115494918.

rs1491154949 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:188773282 (GRCh38)
4:189694436 (GRCh37)
Canonical SPDI:: NC_000004.12:188773281:AT:
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00206/34 (TOMMO)
HGVS:: NC_000004.12:g.188773282_188773283del, NC_000004.11:g.189694436_189694437del

Select item 149114298319.

rs1491142983 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGTGT [Show Flanks]
Chromosome:: 4:188801518 (GRCh38)
4:189722673 (GRCh37)
Canonical SPDI:: NC_000004.12:188801518:T:TGT,NC_000004.12:188801518:T:TGTGTGT
Gene:: LOC101930028 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.188801519_188801520insGT, NC_000004.12:g.188801520GT[3], NC_000004.11:g.189722673_189722674insGT, NC_000004.11:g.189722674GT[3]

Select item 149113324720.

rs1491133247 has merged into rs70944312 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:188780092 (GRCh38)
4:189701246 (GRCh37)
Canonical SPDI:: NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:188780081:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC101930028 (Varview), LINC02508 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.188780092_188780108del, NC_000004.12:g.188780093_188780108del, NC_000004.12:g.188780094_188780108del, NC_000004.12:g.188780095_188780108del, NC_000004.12:g.188780096_188780108del, NC_000004.12:g.188780097_188780108del, NC_000004.12:g.188780098_188780108del, NC_000004.12:g.188780099_188780108del, NC_000004.12:g.188780100_188780108del, NC_000004.12:g.188780101_188780108del, NC_000004.12:g.188780102_188780108del, NC_000004.12:g.188780103_188780108del, NC_000004.12:g.188780104_188780108del, NC_000004.12:g.188780105_188780108del, NC_000004.12:g.188780106_188780108del, NC_000004.12:g.188780107_188780108del, NC_000004.12:g.188780108del, NC_000004.12:g.188780108dup, NC_000004.12:g.188780107_188780108dup, NC_000004.12:g.188780106_188780108dup, NC_000004.12:g.188780105_188780108dup, NC_000004.12:g.188780104_188780108dup, NC_000004.12:g.188780103_188780108dup, NC_000004.12:g.188780102_188780108dup, NC_000004.12:g.188780101_188780108dup, NC_000004.12:g.188780098_188780108dup, NC_000004.12:g.188780096_188780108dup, NC_000004.11:g.189701246_189701262del, NC_000004.11:g.189701247_189701262del, NC_000004.11:g.189701248_189701262del, NC_000004.11:g.189701249_189701262del, NC_000004.11:g.189701250_189701262del, NC_000004.11:g.189701251_189701262del, NC_000004.11:g.189701252_189701262del, NC_000004.11:g.189701253_189701262del, NC_000004.11:g.189701254_189701262del, NC_000004.11:g.189701255_189701262del, NC_000004.11:g.189701256_189701262del, NC_000004.11:g.189701257_189701262del, NC_000004.11:g.189701258_189701262del, NC_000004.11:g.189701259_189701262del, NC_000004.11:g.189701260_189701262del, NC_000004.11:g.189701261_189701262del, NC_000004.11:g.189701262del, NC_000004.11:g.189701262dup, NC_000004.11:g.189701261_189701262dup, NC_000004.11:g.189701260_189701262dup, NC_000004.11:g.189701259_189701262dup, NC_000004.11:g.189701258_189701262dup, NC_000004.11:g.189701257_189701262dup, NC_000004.11:g.189701256_189701262dup, NC_000004.11:g.189701255_189701262dup, NC_000004.11:g.189701252_189701262dup, NC_000004.11:g.189701250_189701262dup

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