SNP Links for Nucleotide (Select 1174462923) - SNP

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Select item 14915399301.

rs1491539930 [Homo sapiens]

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

Select item 14915355412.

rs1491535541 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:96591814 (GRCh38)
7:96221127 (GRCh37)
Canonical SPDI:: NC_000007.14:96591814::G
Gene:: SEM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.96591814_96591815insG, NC_000007.13:g.96221126_96221127insG, NG_009273.2:g.123077_123078insC, NG_065163.1:g.152_153insG

Select item 14915290683.

rs1491529068 has merged into rs1291345276 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA [Show Flanks]
Chromosome:: 7:96703972 (GRCh38)
7:96333284 (GRCh37)
Canonical SPDI:: NC_000007.14:96703968:AAAAA:AAA,NC_000007.14:96703968:AAAAA:AAAAAA,NC_000007.14:96703968:AAAAA:AAAAAAA
Gene:: SEM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.00248/41 (TOMMO)
HGVS:: NC_000007.14:g.96703972_96703973del, NC_000007.14:g.96703973dup, NC_000007.14:g.96703972_96703973dup, NC_000007.13:g.96333284_96333285del, NC_000007.13:g.96333285dup, NC_000007.13:g.96333284_96333285dup, NG_009273.2:g.10922_10923del, NG_009273.2:g.10923dup, NG_009273.2:g.10922_10923dup

Select item 14915225714.

rs1491522571 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 7:96693761 (GRCh38)
7:96323074 (GRCh37)
Canonical SPDI:: NC_000007.14:96693761:GTGTGTGTGTGTG:GTGTGTGTGTGTGCGTGTGTGTGTGTG
Gene:: SEM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.00093/11 (ALFA)
GTGTGTGTGTGTGC=0.00457/259 (GnomAD)
GTGTGTGTGTGTGC=0.01053/6 (NorthernSweden)
HGVS:: NC_000007.14:g.96693762_96693774GT[6]GCGTGTGTGTGTGTG[1], NC_000007.13:g.96323074_96323086GT[6]GCGTGTGTGTGTGTG[1], NG_009273.2:g.21118_21130CA[6]CGCACACACACACAC[1]

Select item 14914757775.

rs1491475777 has merged into rs762508661 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACA [Show Flanks]
Chromosome:: 7:96497006 (GRCh38)
7:96126319 (GRCh37)
Canonical SPDI:: NC_000007.14:96497006:A:ACA,NC_000007.14:96497006:A:ACACA,NC_000007.14:96497006:A:ACACACA,NC_000007.14:96497006:A:ACACACACA
Gene:: SEM1 (Varview), LOC105375411 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
AC=0.07265/280 (ALSPAC)
AC=0.08549/317 (TWINSUK)
AC=0.10169/60 (NorthernSweden)
HGVS:: NC_000007.14:g.96497007_96497008insCA, NC_000007.14:g.96497007_96497008insCACA, NC_000007.14:g.96497008CA[3], NC_000007.14:g.96497008CA[4], NC_000007.13:g.96126319_96126320insCA, NC_000007.13:g.96126319_96126320insCACA, NC_000007.13:g.96126320CA[3], NC_000007.13:g.96126320CA[4], NG_009273.2:g.217885_217886insGT, NG_009273.2:g.217885_217886insGTGT, NG_009273.2:g.217886GT[3], NG_009273.2:g.217886GT[4]

Select item 14914358476.

rs1491435847 has merged into rs34525327 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:96705370 (GRCh38)
7:96334682 (GRCh37)
Canonical SPDI:: NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEM1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2566/989 (ALSPAC)
A=0.4445/2226 (1000Genomes)
HGVS:: NC_000007.14:g.96705370_96705375del, NC_000007.14:g.96705372_96705375del, NC_000007.14:g.96705373_96705375del, NC_000007.14:g.96705374_96705375del, NC_000007.14:g.96705375del, NC_000007.14:g.96705375dup, NC_000007.14:g.96705374_96705375dup, NC_000007.14:g.96705373_96705375dup, NC_000007.14:g.96705366_96705375dup, NC_000007.13:g.96334682_96334687del, NC_000007.13:g.96334684_96334687del, NC_000007.13:g.96334685_96334687del, NC_000007.13:g.96334686_96334687del, NC_000007.13:g.96334687del, NC_000007.13:g.96334687dup, NC_000007.13:g.96334686_96334687dup, NC_000007.13:g.96334685_96334687dup, NC_000007.13:g.96334678_96334687dup, NG_009273.2:g.9527_9532del, NG_009273.2:g.9529_9532del, NG_009273.2:g.9530_9532del, NG_009273.2:g.9531_9532del, NG_009273.2:g.9532del, NG_009273.2:g.9532dup, NG_009273.2:g.9531_9532dup, NG_009273.2:g.9530_9532dup, NG_009273.2:g.9523_9532dup

Select item 14914081297.

rs1491408129 has merged into rs1186173108 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:96573939 (GRCh38)
7:96203251 (GRCh37)
Canonical SPDI:: NC_000007.14:96573938:AA:A,NC_000007.14:96573938:AA:AAA
Gene:: SEM1 (Varview), LOC107986825 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.96573940del, NC_000007.14:g.96573940dup, NC_000007.13:g.96203252del, NC_000007.13:g.96203252dup, NG_009273.2:g.140953del, NG_009273.2:g.140953dup

Select item 14913947958.

rs1491394795 has merged into rs60940244 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:96615251 (GRCh38)
7:96244563 (GRCh37)
Canonical SPDI:: NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96615241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEM1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000007.14:g.96615251_96615265del, NC_000007.14:g.96615252_96615265del, NC_000007.14:g.96615253_96615265del, NC_000007.14:g.96615254_96615265del, NC_000007.14:g.96615256_96615265del, NC_000007.14:g.96615258_96615265del, NC_000007.14:g.96615259_96615265del, NC_000007.14:g.96615261_96615265del, NC_000007.14:g.96615262_96615265del, NC_000007.14:g.96615263_96615265del, NC_000007.14:g.96615264_96615265del, NC_000007.14:g.96615265del, NC_000007.14:g.96615265dup, NC_000007.14:g.96615264_96615265dup, NC_000007.14:g.96615263_96615265dup, NC_000007.14:g.96615262_96615265dup, NC_000007.14:g.96615261_96615265dup, NC_000007.14:g.96615260_96615265dup, NC_000007.14:g.96615259_96615265dup, NC_000007.14:g.96615258_96615265dup, NC_000007.14:g.96615257_96615265dup, NC_000007.14:g.96615256_96615265dup, NC_000007.14:g.96615255_96615265dup, NC_000007.14:g.96615254_96615265dup, NC_000007.14:g.96615253_96615265dup, NC_000007.14:g.96615252_96615265dup, NC_000007.14:g.96615251_96615265dup, NC_000007.14:g.96615250_96615265dup, NC_000007.14:g.96615249_96615265dup, NC_000007.14:g.96615248_96615265dup, NC_000007.14:g.96615247_96615265dup, NC_000007.14:g.96615246_96615265dup, NC_000007.14:g.96615245_96615265dup, NC_000007.14:g.96615244_96615265dup, NC_000007.14:g.96615243_96615265dup, NC_000007.14:g.96615242_96615265dup, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96615265_96615266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244563_96244577del, NC_000007.13:g.96244564_96244577del, NC_000007.13:g.96244565_96244577del, NC_000007.13:g.96244566_96244577del, NC_000007.13:g.96244568_96244577del, NC_000007.13:g.96244570_96244577del, NC_000007.13:g.96244571_96244577del, NC_000007.13:g.96244573_96244577del, NC_000007.13:g.96244574_96244577del, NC_000007.13:g.96244575_96244577del, NC_000007.13:g.96244576_96244577del, NC_000007.13:g.96244577del, NC_000007.13:g.96244577dup, NC_000007.13:g.96244576_96244577dup, NC_000007.13:g.96244575_96244577dup, NC_000007.13:g.96244574_96244577dup, NC_000007.13:g.96244573_96244577dup, NC_000007.13:g.96244572_96244577dup, NC_000007.13:g.96244571_96244577dup, NC_000007.13:g.96244570_96244577dup, NC_000007.13:g.96244569_96244577dup, NC_000007.13:g.96244568_96244577dup, NC_000007.13:g.96244567_96244577dup, NC_000007.13:g.96244566_96244577dup, NC_000007.13:g.96244565_96244577dup, NC_000007.13:g.96244564_96244577dup, NC_000007.13:g.96244563_96244577dup, NC_000007.13:g.96244562_96244577dup, NC_000007.13:g.96244561_96244577dup, NC_000007.13:g.96244560_96244577dup, NC_000007.13:g.96244559_96244577dup, NC_000007.13:g.96244558_96244577dup, NC_000007.13:g.96244557_96244577dup, NC_000007.13:g.96244556_96244577dup, NC_000007.13:g.96244555_96244577dup, NC_000007.13:g.96244554_96244577dup, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96244577_96244578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009273.2:g.99636_99650del, NG_009273.2:g.99637_99650del, NG_009273.2:g.99638_99650del, NG_009273.2:g.99639_99650del, NG_009273.2:g.99641_99650del, NG_009273.2:g.99643_99650del, NG_009273.2:g.99644_99650del, NG_009273.2:g.99646_99650del, NG_009273.2:g.99647_99650del, NG_009273.2:g.99648_99650del, NG_009273.2:g.99649_99650del, NG_009273.2:g.99650del, NG_009273.2:g.99650dup, NG_009273.2:g.99649_99650dup, NG_009273.2:g.99648_99650dup, NG_009273.2:g.99647_99650dup, NG_009273.2:g.99646_99650dup, NG_009273.2:g.99645_99650dup, NG_009273.2:g.99644_99650dup, NG_009273.2:g.99643_99650dup, NG_009273.2:g.99642_99650dup, NG_009273.2:g.99641_99650dup, NG_009273.2:g.99640_99650dup, NG_009273.2:g.99639_99650dup, NG_009273.2:g.99638_99650dup, NG_009273.2:g.99637_99650dup, NG_009273.2:g.99636_99650dup, NG_009273.2:g.99635_99650dup, NG_009273.2:g.99634_99650dup, NG_009273.2:g.99633_99650dup, NG_009273.2:g.99632_99650dup, NG_009273.2:g.99631_99650dup, NG_009273.2:g.99630_99650dup, NG_009273.2:g.99629_99650dup, NG_009273.2:g.99628_99650dup, NG_009273.2:g.99627_99650dup, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.99650_99651insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913787109.

rs1491378710 has merged into rs933659887 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC [Show Flanks]
Chromosome:: 7:96497027 (GRCh38)
7:96126339 (GRCh37)
Canonical SPDI:: NC_000007.14:96497008:ACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000007.14:96497008:ACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000007.14:96497008:ACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000007.14:96497008:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000007.14:96497008:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC
Gene:: SEM1 (Varview), LOC105375411 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.96497009AC[9], NC_000007.14:g.96497009AC[10], NC_000007.14:g.96497009AC[11], NC_000007.14:g.96497009AC[13], NC_000007.14:g.96497009AC[14], NC_000007.13:g.96126321AC[9], NC_000007.13:g.96126321AC[10], NC_000007.13:g.96126321AC[11], NC_000007.13:g.96126321AC[13], NC_000007.13:g.96126321AC[14], NG_009273.2:g.217860GT[9], NG_009273.2:g.217860GT[10], NG_009273.2:g.217860GT[11], NG_009273.2:g.217860GT[13], NG_009273.2:g.217860GT[14]

Select item 149136094110.

rs1491360941 has merged into rs112781467 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 7:96522731 (GRCh38)
7:96152043 (GRCh37)
Canonical SPDI:: NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCC,NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC,NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC,NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCC,NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: SEM1 (Varview), LOC105375412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000007.14:g.96522731_96522732del, NC_000007.14:g.96522732del, NC_000007.14:g.96522732dup, NC_000007.14:g.96522731_96522732dup, NC_000007.14:g.96522730_96522732dup, NC_000007.14:g.96522729_96522732dup, NC_000007.13:g.96152043_96152044del, NC_000007.13:g.96152044del, NC_000007.13:g.96152044dup, NC_000007.13:g.96152043_96152044dup, NC_000007.13:g.96152042_96152044dup, NC_000007.13:g.96152041_96152044dup, NG_009273.2:g.192168_192169del, NG_009273.2:g.192169del, NG_009273.2:g.192169dup, NG_009273.2:g.192168_192169dup, NG_009273.2:g.192167_192169dup, NG_009273.2:g.192166_192169dup

Select item 149130466611.

rs1491304666 has merged into rs34525327 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:96705370 (GRCh38)
7:96334682 (GRCh37)
Canonical SPDI:: NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:96705359:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEM1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2566/989 (ALSPAC)
A=0.4445/2226 (1000Genomes)
HGVS:: NC_000007.14:g.96705370_96705375del, NC_000007.14:g.96705372_96705375del, NC_000007.14:g.96705373_96705375del, NC_000007.14:g.96705374_96705375del, NC_000007.14:g.96705375del, NC_000007.14:g.96705375dup, NC_000007.14:g.96705374_96705375dup, NC_000007.14:g.96705373_96705375dup, NC_000007.14:g.96705366_96705375dup, NC_000007.13:g.96334682_96334687del, NC_000007.13:g.96334684_96334687del, NC_000007.13:g.96334685_96334687del, NC_000007.13:g.96334686_96334687del, NC_000007.13:g.96334687del, NC_000007.13:g.96334687dup, NC_000007.13:g.96334686_96334687dup, NC_000007.13:g.96334685_96334687dup, NC_000007.13:g.96334678_96334687dup, NG_009273.2:g.9527_9532del, NG_009273.2:g.9529_9532del, NG_009273.2:g.9530_9532del, NG_009273.2:g.9531_9532del, NG_009273.2:g.9532del, NG_009273.2:g.9532dup, NG_009273.2:g.9531_9532dup, NG_009273.2:g.9530_9532dup, NG_009273.2:g.9523_9532dup

Select item 149128905912.

rs1491289059 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:96492759 (GRCh38)
7:96122071 (GRCh37)
Canonical SPDI:: NC_000007.14:96492758:AT:
Gene:: SEM1 (Varview), LOC105375411 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00063/55 (GnomAD)
HGVS:: NC_000007.14:g.96492759_96492760del, NC_000007.13:g.96122071_96122072del, NG_009273.2:g.222132_222133del

Select item 149126506913.

rs1491265069 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:96714694 (GRCh38)
7:96344006 (GRCh37)
Canonical SPDI:: NC_000007.14:96714693:AT:
Validated:: by frequency,by alfa
MAF:: -=0.000142/2 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000007.14:g.96714694_96714695del, NC_000007.13:g.96344006_96344007del, NG_009273.2:g.197_198del

Select item 149125325514.

rs1491253255 has merged into rs61049763 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:96541450 (GRCh38)
7:96170762 (GRCh37)
Canonical SPDI:: NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541443:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEM1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.96541450_96541459del, NC_000007.14:g.96541451_96541459del, NC_000007.14:g.96541453_96541459del, NC_000007.14:g.96541456_96541459del, NC_000007.14:g.96541457_96541459del, NC_000007.14:g.96541458_96541459del, NC_000007.14:g.96541459del, NC_000007.14:g.96541459dup, NC_000007.14:g.96541458_96541459dup, NC_000007.14:g.96541457_96541459dup, NC_000007.14:g.96541456_96541459dup, NC_000007.14:g.96541455_96541459dup, NC_000007.14:g.96541454_96541459dup, NC_000007.14:g.96541452_96541459dup, NC_000007.14:g.96541451_96541459dup, NC_000007.14:g.96541450_96541459dup, NC_000007.14:g.96541449_96541459dup, NC_000007.14:g.96541448_96541459dup, NC_000007.14:g.96541447_96541459dup, NC_000007.14:g.96541446_96541459dup, NC_000007.14:g.96541445_96541459dup, NC_000007.14:g.96541459_96541460insTTTTTTTTTTTTTTTTT, NC_000007.14:g.96541459_96541460insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96541459_96541460insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.96541459_96541460insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96170762_96170771del, NC_000007.13:g.96170763_96170771del, NC_000007.13:g.96170765_96170771del, NC_000007.13:g.96170768_96170771del, NC_000007.13:g.96170769_96170771del, NC_000007.13:g.96170770_96170771del, NC_000007.13:g.96170771del, NC_000007.13:g.96170771dup, NC_000007.13:g.96170770_96170771dup, NC_000007.13:g.96170769_96170771dup, NC_000007.13:g.96170768_96170771dup, NC_000007.13:g.96170767_96170771dup, NC_000007.13:g.96170766_96170771dup, NC_000007.13:g.96170764_96170771dup, NC_000007.13:g.96170763_96170771dup, NC_000007.13:g.96170762_96170771dup, NC_000007.13:g.96170761_96170771dup, NC_000007.13:g.96170760_96170771dup, NC_000007.13:g.96170759_96170771dup, NC_000007.13:g.96170758_96170771dup, NC_000007.13:g.96170757_96170771dup, NC_000007.13:g.96170771_96170772insTTTTTTTTTTTTTTTTT, NC_000007.13:g.96170771_96170772insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96170771_96170772insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96170771_96170772insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009273.2:g.173439_173448del, NG_009273.2:g.173440_173448del, NG_009273.2:g.173442_173448del, NG_009273.2:g.173445_173448del, NG_009273.2:g.173446_173448del, NG_009273.2:g.173447_173448del, NG_009273.2:g.173448del, NG_009273.2:g.173448dup, NG_009273.2:g.173447_173448dup, NG_009273.2:g.173446_173448dup, NG_009273.2:g.173445_173448dup, NG_009273.2:g.173444_173448dup, NG_009273.2:g.173443_173448dup, NG_009273.2:g.173441_173448dup, NG_009273.2:g.173440_173448dup, NG_009273.2:g.173439_173448dup, NG_009273.2:g.173438_173448dup, NG_009273.2:g.173437_173448dup, NG_009273.2:g.173436_173448dup, NG_009273.2:g.173435_173448dup, NG_009273.2:g.173434_173448dup, NG_009273.2:g.173448_173449insAAAAAAAAAAAAAAAAA, NG_009273.2:g.173448_173449insAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.173448_173449insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009273.2:g.173448_173449insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149123150115.

rs1491231501 has merged into rs566641071 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:96693778 (GRCh38)
7:96323090 (GRCh37)
Canonical SPDI:: NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:96693760:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SEM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.96693762GT[8], NC_000007.14:g.96693762GT[9], NC_000007.14:g.96693762GT[10], NC_000007.14:g.96693762GT[11], NC_000007.14:g.96693762GT[12], NC_000007.14:g.96693762GT[13], NC_000007.14:g.96693762GT[14], NC_000007.14:g.96693762GT[16], NC_000007.14:g.96693762GT[17], NC_000007.14:g.96693762GT[18], NC_000007.14:g.96693762GT[19], NC_000007.14:g.96693762GT[20], NC_000007.14:g.96693762GT[21], NC_000007.14:g.96693762GT[22], NC_000007.14:g.96693762GT[23], NC_000007.14:g.96693762GT[24], NC_000007.14:g.96693762GT[25], NC_000007.14:g.96693762GT[26], NC_000007.14:g.96693762GT[27], NC_000007.14:g.96693762GT[28], NC_000007.14:g.96693762GT[29], NC_000007.14:g.96693762GT[30], NC_000007.13:g.96323074GT[8], NC_000007.13:g.96323074GT[9], NC_000007.13:g.96323074GT[10], NC_000007.13:g.96323074GT[11], NC_000007.13:g.96323074GT[12], NC_000007.13:g.96323074GT[13], NC_000007.13:g.96323074GT[14], NC_000007.13:g.96323074GT[16], NC_000007.13:g.96323074GT[17], NC_000007.13:g.96323074GT[18], NC_000007.13:g.96323074GT[19], NC_000007.13:g.96323074GT[20], NC_000007.13:g.96323074GT[21], NC_000007.13:g.96323074GT[22], NC_000007.13:g.96323074GT[23], NC_000007.13:g.96323074GT[24], NC_000007.13:g.96323074GT[25], NC_000007.13:g.96323074GT[26], NC_000007.13:g.96323074GT[27], NC_000007.13:g.96323074GT[28], NC_000007.13:g.96323074GT[29], NC_000007.13:g.96323074GT[30], NG_009273.2:g.21102CA[8], NG_009273.2:g.21102CA[9], NG_009273.2:g.21102CA[10], NG_009273.2:g.21102CA[11], NG_009273.2:g.21102CA[12], NG_009273.2:g.21102CA[13], NG_009273.2:g.21102CA[14], NG_009273.2:g.21102CA[16], NG_009273.2:g.21102CA[17], NG_009273.2:g.21102CA[18], NG_009273.2:g.21102CA[19], NG_009273.2:g.21102CA[20], NG_009273.2:g.21102CA[21], NG_009273.2:g.21102CA[22], NG_009273.2:g.21102CA[23], NG_009273.2:g.21102CA[24], NG_009273.2:g.21102CA[25], NG_009273.2:g.21102CA[26], NG_009273.2:g.21102CA[27], NG_009273.2:g.21102CA[28], NG_009273.2:g.21102CA[29], NG_009273.2:g.21102CA[30]

Select item 149122697816.

rs1491226978 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:96607622 (GRCh38)
7:96236934 (GRCh37)
Canonical SPDI:: NC_000007.14:96607620:CAC:C
Gene:: SEM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.96607622_96607623del, NC_000007.13:g.96236934_96236935del, NG_009273.2:g.107270_107271del

Select item 149121335917.

rs1491213359 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:96693760 (GRCh38)
7:96323072 (GRCh37)
Canonical SPDI:: NC_000007.14:96693759:TT:
Gene:: SEM1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00026/26 (GnomAD)
HGVS:: NC_000007.14:g.96693760_96693761del, NC_000007.13:g.96323072_96323073del, NG_009273.2:g.21131_21132del

Select item 149120233618.

rs1491202336 has merged into rs34050482 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:96541955 (GRCh38)
7:96171267 (GRCh37)
Canonical SPDI:: NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:96541944:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEM1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.96541955_96541965del, NC_000007.14:g.96541956_96541965del, NC_000007.14:g.96541957_96541965del, NC_000007.14:g.96541958_96541965del, NC_000007.14:g.96541959_96541965del, NC_000007.14:g.96541960_96541965del, NC_000007.14:g.96541961_96541965del, NC_000007.14:g.96541962_96541965del, NC_000007.14:g.96541963_96541965del, NC_000007.14:g.96541964_96541965del, NC_000007.14:g.96541965del, NC_000007.14:g.96541965dup, NC_000007.14:g.96541964_96541965dup, NC_000007.14:g.96541963_96541965dup, NC_000007.14:g.96541962_96541965dup, NC_000007.14:g.96541960_96541965dup, NC_000007.14:g.96541959_96541965dup, NC_000007.14:g.96541957_96541965dup, NC_000007.14:g.96541956_96541965dup, NC_000007.14:g.96541965_96541966insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.96171267_96171277del, NC_000007.13:g.96171268_96171277del, NC_000007.13:g.96171269_96171277del, NC_000007.13:g.96171270_96171277del, NC_000007.13:g.96171271_96171277del, NC_000007.13:g.96171272_96171277del, NC_000007.13:g.96171273_96171277del, NC_000007.13:g.96171274_96171277del, NC_000007.13:g.96171275_96171277del, NC_000007.13:g.96171276_96171277del, NC_000007.13:g.96171277del, NC_000007.13:g.96171277dup, NC_000007.13:g.96171276_96171277dup, NC_000007.13:g.96171275_96171277dup, NC_000007.13:g.96171274_96171277dup, NC_000007.13:g.96171272_96171277dup, NC_000007.13:g.96171271_96171277dup, NC_000007.13:g.96171269_96171277dup, NC_000007.13:g.96171268_96171277dup, NC_000007.13:g.96171277_96171278insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009273.2:g.172937_172947del, NG_009273.2:g.172938_172947del, NG_009273.2:g.172939_172947del, NG_009273.2:g.172940_172947del, NG_009273.2:g.172941_172947del, NG_009273.2:g.172942_172947del, NG_009273.2:g.172943_172947del, NG_009273.2:g.172944_172947del, NG_009273.2:g.172945_172947del, NG_009273.2:g.172946_172947del, NG_009273.2:g.172947del, NG_009273.2:g.172947dup, NG_009273.2:g.172946_172947dup, NG_009273.2:g.172945_172947dup, NG_009273.2:g.172944_172947dup, NG_009273.2:g.172942_172947dup, NG_009273.2:g.172941_172947dup, NG_009273.2:g.172939_172947dup, NG_009273.2:g.172938_172947dup, NG_009273.2:g.172947_172948insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149119670719.

rs1491196707 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 7:96541444 (GRCh38)
7:96170757 (GRCh37)
Canonical SPDI:: NC_000007.14:96541444:T:TGT
Gene:: SEM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.00026/15 (GnomAD)
HGVS:: NC_000007.14:g.96541445_96541446insGT, NC_000007.13:g.96170757_96170758insGT, NG_009273.2:g.173447_173448insCA

Select item 149118371320.

rs1491183713 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:96522732 (GRCh38)
7:96152044 (GRCh37)
Canonical SPDI:: NC_000007.14:96522731:CA:
Gene:: SEM1 (Varview), LOC105375412 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.001385/143 (GnomAD)
HGVS:: NC_000007.14:g.96522732_96522733del, NC_000007.13:g.96152044_96152045del, NG_009273.2:g.192159_192160del

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