SNP Links for Gene (Select 57568) - SNP

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Select item 14915806871.

rs1491580687 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:232563997 (GRCh38)
1:232699743 (GRCh37)
Canonical SPDI:: NC_000001.11:232563996:GA:
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000061/1 (ALFA)
-=0.0001/10 (GnomAD)
-=0.000221/6 (TOMMO)
HGVS:: NC_000001.11:g.232563997_232563998del, NC_000001.10:g.232699743_232699744del

Select item 14915787282.

rs1491578728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAAA [Show Flanks]
Chromosome:: 1:232530814 (GRCh38)
1:232666561 (GRCh37)
Canonical SPDI:: NC_000001.11:232530814:A:ACTAAA
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.232530815_232530816insCTAAA, NC_000001.10:g.232666561_232666562insCTAAA

Select item 14915781543.

rs1491578154 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:232466430 (GRCh38)
1:232602176 (GRCh37)
Canonical SPDI:: NC_000001.11:232466425:AGAGAG:AGAG
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
HGVS:: NC_000001.11:g.232466426AG[2], NC_000001.10:g.232602172AG[2]

Select item 14915670774.

rs1491567077 has merged into rs10678164 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAT>-,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 1:232510240 (GRCh38)
1:232645986 (GRCh37)
Canonical SPDI:: NC_000001.11:232510231:ATATATATATATATAT:ATATATAT,NC_000001.11:232510231:ATATATATATATATAT:ATATATATATAT,NC_000001.11:232510231:ATATATATATATATAT:ATATATATATATAT,NC_000001.11:232510231:ATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:232510231:ATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:232510231:ATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:232510231:ATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:232510231:ATATATATATATATAT:ATATATATATATATATATATATATAT
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
-=0.205/123 (NorthernSweden)
AT=0.2877/61 (Vietnamese)
-=0.3/12 (GENOME_DK)
-=0.4483/2245 (1000Genomes)
HGVS:: NC_000001.11:g.232510232AT[4], NC_000001.11:g.232510232AT[6], NC_000001.11:g.232510232AT[7], NC_000001.11:g.232510232AT[9], NC_000001.11:g.232510232AT[10], NC_000001.11:g.232510232AT[11], NC_000001.11:g.232510232AT[12], NC_000001.11:g.232510232AT[13], NC_000001.10:g.232645978AT[4], NC_000001.10:g.232645978AT[6], NC_000001.10:g.232645978AT[7], NC_000001.10:g.232645978AT[9], NC_000001.10:g.232645978AT[10], NC_000001.10:g.232645978AT[11], NC_000001.10:g.232645978AT[12], NC_000001.10:g.232645978AT[13]

Select item 14915603205.

rs1491560320 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:232510232 (GRCh38)
1:232645979 (GRCh37)
Canonical SPDI:: NC_000001.11:232510232:T:TGT
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00007/1 (GnomAD)
HGVS:: NC_000001.11:g.232510233_232510234insGT, NC_000001.10:g.232645979_232645980insGT

Select item 14915527816.

rs1491552781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 1:232480155 (GRCh38)
1:232615902 (GRCh37)
Canonical SPDI:: NC_000001.11:232480155:T:TTT
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.232480156_232480157insTT, NC_000001.10:g.232615902_232615903insTT

Select item 14915482417.

rs1491548241 has merged into rs1237995972 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACACACACAC [Show Flanks]
Chromosome:: 1:232465558 (GRCh38)
1:232601304 (GRCh37)
Canonical SPDI:: NC_000001.11:232465549:ACACACACAC:ACACACAC,NC_000001.11:232465549:ACACACACAC:ACACACACACACACACAC
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
ACACACAC=0.000018/2 (GnomAD)
HGVS:: NC_000001.11:g.232465550AC[4], NC_000001.11:g.232465550AC[9], NC_000001.10:g.232601296AC[4], NC_000001.10:g.232601296AC[9]

Select item 14915298258.

rs1491529825 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:232597689 (GRCh38)
1:232733435 (GRCh37)
Canonical SPDI:: NC_000001.11:232597688:CA:
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00658/78 (ALFA)
-=0.00143/23 (TOMMO)
HGVS:: NC_000001.11:g.232597689_232597690del, NC_000001.10:g.232733435_232733436del, XM_047426139.1:c.-22456_-22455del, XM_047426143.1:c.-2756_-2755del

Select item 14915112469.

rs1491511246 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:232572780 (GRCh38)
1:232708527 (GRCh37)
Canonical SPDI:: NC_000001.11:232572780::A
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.0017/28 (TOMMO)
A=0.00373/194 (GnomAD)
HGVS:: NC_000001.11:g.232572780_232572781insA, NC_000001.10:g.232708526_232708527insA

Select item 149150753610.

rs1491507536 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTTT [Show Flanks]
Chromosome:: 1:232480191 (GRCh38)
1:232615938 (GRCh37)
Canonical SPDI:: NC_000001.11:232480191:T:TGTGTTT
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTTT=0./0 (ALFA)
TGTGTT=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.232480192TG[2]TTT[1], NC_000001.10:g.232615938TG[2]TTT[1]

Select item 149149737411.

rs1491497374 has merged into rs57868657 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:232527737 (GRCh38)
1:232663483 (GRCh37)
Canonical SPDI:: NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232527725:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.232527737_232527749del, NC_000001.11:g.232527738_232527749del, NC_000001.11:g.232527739_232527749del, NC_000001.11:g.232527740_232527749del, NC_000001.11:g.232527741_232527749del, NC_000001.11:g.232527742_232527749del, NC_000001.11:g.232527743_232527749del, NC_000001.11:g.232527744_232527749del, NC_000001.11:g.232527745_232527749del, NC_000001.11:g.232527746_232527749del, NC_000001.11:g.232527747_232527749del, NC_000001.11:g.232527748_232527749del, NC_000001.11:g.232527749del, NC_000001.11:g.232527749dup, NC_000001.11:g.232527748_232527749dup, NC_000001.11:g.232527747_232527749dup, NC_000001.11:g.232527746_232527749dup, NC_000001.11:g.232527745_232527749dup, NC_000001.11:g.232527744_232527749dup, NC_000001.11:g.232527743_232527749dup, NC_000001.11:g.232527742_232527749dup, NC_000001.11:g.232527741_232527749dup, NC_000001.11:g.232527740_232527749dup, NC_000001.11:g.232527739_232527749dup, NC_000001.11:g.232527738_232527749dup, NC_000001.11:g.232527737_232527749dup, NC_000001.11:g.232527736_232527749dup, NC_000001.11:g.232527735_232527749dup, NC_000001.11:g.232527734_232527749dup, NC_000001.11:g.232527733_232527749dup, NC_000001.11:g.232527730_232527749dup, NC_000001.11:g.232527729_232527749dup, NC_000001.11:g.232527728_232527749dup, NC_000001.11:g.232527727_232527749dup, NC_000001.11:g.232527749_232527750insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232527749_232527750insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232527749_232527750insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232527749_232527750insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232663483_232663495del, NC_000001.10:g.232663484_232663495del, NC_000001.10:g.232663485_232663495del, NC_000001.10:g.232663486_232663495del, NC_000001.10:g.232663487_232663495del, NC_000001.10:g.232663488_232663495del, NC_000001.10:g.232663489_232663495del, NC_000001.10:g.232663490_232663495del, NC_000001.10:g.232663491_232663495del, NC_000001.10:g.232663492_232663495del, NC_000001.10:g.232663493_232663495del, NC_000001.10:g.232663494_232663495del, NC_000001.10:g.232663495del, NC_000001.10:g.232663495dup, NC_000001.10:g.232663494_232663495dup, NC_000001.10:g.232663493_232663495dup, NC_000001.10:g.232663492_232663495dup, NC_000001.10:g.232663491_232663495dup, NC_000001.10:g.232663490_232663495dup, NC_000001.10:g.232663489_232663495dup, NC_000001.10:g.232663488_232663495dup, NC_000001.10:g.232663487_232663495dup, NC_000001.10:g.232663486_232663495dup, NC_000001.10:g.232663485_232663495dup, NC_000001.10:g.232663484_232663495dup, NC_000001.10:g.232663483_232663495dup, NC_000001.10:g.232663482_232663495dup, NC_000001.10:g.232663481_232663495dup, NC_000001.10:g.232663480_232663495dup, NC_000001.10:g.232663479_232663495dup, NC_000001.10:g.232663476_232663495dup, NC_000001.10:g.232663475_232663495dup, NC_000001.10:g.232663474_232663495dup, NC_000001.10:g.232663473_232663495dup, NC_000001.10:g.232663495_232663496insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232663495_232663496insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232663495_232663496insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232663495_232663496insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149148591112.

rs1491485911 has merged into rs33934850 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:232449530 (GRCh38)
1:232585276 (GRCh37)
Canonical SPDI:: NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232449517:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.232449530_232449537del, NC_000001.11:g.232449532_232449537del, NC_000001.11:g.232449534_232449537del, NC_000001.11:g.232449535_232449537del, NC_000001.11:g.232449536_232449537del, NC_000001.11:g.232449537del, NC_000001.11:g.232449537dup, NC_000001.11:g.232449536_232449537dup, NC_000001.11:g.232449533_232449537dup, NC_000001.10:g.232585276_232585283del, NC_000001.10:g.232585278_232585283del, NC_000001.10:g.232585280_232585283del, NC_000001.10:g.232585281_232585283del, NC_000001.10:g.232585282_232585283del, NC_000001.10:g.232585283del, NC_000001.10:g.232585283dup, NC_000001.10:g.232585282_232585283dup, NC_000001.10:g.232585279_232585283dup

Select item 149148586913.

rs1491485869 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:232592808 (GRCh38)
1:232728555 (GRCh37)
Canonical SPDI:: NC_000001.11:232592808::A
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.232592808_232592809insA, NC_000001.10:g.232728554_232728555insA, XM_047426139.1:c.-17575_-17574insT

Select item 149147621914.

rs1491476219 has merged into rs386369969 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:232495577 (GRCh38)
1:232631323 (GRCh37)
Canonical SPDI:: NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:232495564:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2452/1228 (1000Genomes)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000001.11:g.232495577_232495581del, NC_000001.11:g.232495578_232495581del, NC_000001.11:g.232495579_232495581del, NC_000001.11:g.232495580_232495581del, NC_000001.11:g.232495581del, NC_000001.11:g.232495581dup, NC_000001.11:g.232495580_232495581dup, NC_000001.11:g.232495579_232495581dup, NC_000001.11:g.232495574_232495581dup, NC_000001.10:g.232631323_232631327del, NC_000001.10:g.232631324_232631327del, NC_000001.10:g.232631325_232631327del, NC_000001.10:g.232631326_232631327del, NC_000001.10:g.232631327del, NC_000001.10:g.232631327dup, NC_000001.10:g.232631326_232631327dup, NC_000001.10:g.232631325_232631327dup, NC_000001.10:g.232631320_232631327dup

Select item 149147386515.

rs1491473865 has merged into rs71173228 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:232609836 (GRCh38)
1:232745582 (GRCh37)
Canonical SPDI:: NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232609829:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SIPA1L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.232609836_232609845del, NC_000001.11:g.232609837_232609845del, NC_000001.11:g.232609842_232609845del, NC_000001.11:g.232609843_232609845del, NC_000001.11:g.232609844_232609845del, NC_000001.11:g.232609845del, NC_000001.11:g.232609845dup, NC_000001.11:g.232609844_232609845dup, NC_000001.11:g.232609841_232609845dup, NC_000001.11:g.232609840_232609845dup, NC_000001.11:g.232609839_232609845dup, NC_000001.11:g.232609835_232609845dup, NC_000001.11:g.232609834_232609845dup, NC_000001.11:g.232609833_232609845dup, NC_000001.11:g.232609830_232609845dup, NC_000001.11:g.232609845_232609846insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.232609845_232609846insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.232609845_232609846insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.232745582_232745591del, NC_000001.10:g.232745583_232745591del, NC_000001.10:g.232745588_232745591del, NC_000001.10:g.232745589_232745591del, NC_000001.10:g.232745590_232745591del, NC_000001.10:g.232745591del, NC_000001.10:g.232745591dup, NC_000001.10:g.232745590_232745591dup, NC_000001.10:g.232745587_232745591dup, NC_000001.10:g.232745586_232745591dup, NC_000001.10:g.232745585_232745591dup, NC_000001.10:g.232745581_232745591dup, NC_000001.10:g.232745580_232745591dup, NC_000001.10:g.232745579_232745591dup, NC_000001.10:g.232745576_232745591dup, NC_000001.10:g.232745591_232745592insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.232745591_232745592insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.232745591_232745592insAAAAAAAAAAAAAAAAAAAAAAA, XM_047426140.1:c.-1246_-1237del, XM_047426140.1:c.-1245_-1237del, XM_047426140.1:c.-1240_-1237del, XM_047426140.1:c.-1239_-1237del, XM_047426140.1:c.-1238_-1237del, XM_047426140.1:c.-1237del, XM_047426140.1:c.-1237dup, XM_047426140.1:c.-1238_-1237dup, XM_047426140.1:c.-1241_-1237dup, XM_047426140.1:c.-1242_-1237dup, XM_047426140.1:c.-1243_-1237dup, XM_047426140.1:c.-1247_-1237dup, XM_047426140.1:c.-1248_-1237dup, XM_047426140.1:c.-1249_-1237dup, XM_047426140.1:c.-1252_-1237dup, XM_047426140.1:c.-1237_-1236insTTTTTTTTTTTTTTTTTTTTT, XM_047426140.1:c.-1237_-1236insTTTTTTTTTTTTTTTTTTTTTT, XM_047426140.1:c.-1237_-1236insTTTTTTTTTTTTTTTTTTTTTTT, XM_047426144.1:c.-1197_-1188del, XM_047426144.1:c.-1196_-1188del, XM_047426144.1:c.-1191_-1188del, XM_047426144.1:c.-1190_-1188del, XM_047426144.1:c.-1189_-1188del, XM_047426144.1:c.-1188del, XM_047426144.1:c.-1188dup, XM_047426144.1:c.-1189_-1188dup, XM_047426144.1:c.-1192_-1188dup, XM_047426144.1:c.-1193_-1188dup, XM_047426144.1:c.-1194_-1188dup, XM_047426144.1:c.-1198_-1188dup, XM_047426144.1:c.-1199_-1188dup, XM_047426144.1:c.-1200_-1188dup, XM_047426144.1:c.-1203_-1188dup, XM_047426144.1:c.-1188_-1187insTTTTTTTTTTTTTTTTTTTTT, XM_047426144.1:c.-1188_-1187insTTTTTTTTTTTTTTTTTTTTTT, XM_047426144.1:c.-1188_-1187insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149147308016.

rs1491473080 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:232428371 (GRCh38)
1:232564117 (GRCh37)
Canonical SPDI:: NC_000001.11:232428370:TA:
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.232428371_232428372del, NC_000001.10:g.232564117_232564118del

Select item 149146221617.

rs1491462216 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACAT,AT [Show Flanks]
Chromosome:: 1:232487955 (GRCh38)
1:232623702 (GRCh37)
Canonical SPDI:: NC_000001.11:232487955::ACAT,NC_000001.11:232487955::AT
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
ACAT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.232487955_232487956insACAT, NC_000001.11:g.232487955_232487956insAT, NC_000001.10:g.232623701_232623702insACAT, NC_000001.10:g.232623701_232623702insAT

Select item 149144619518.

rs1491446195 has merged into rs60008360 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:232501063 (GRCh38)
1:232636809 (GRCh37)
Canonical SPDI:: NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:232501050:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3149/1577 (1000Genomes)
HGVS:: NC_000001.11:g.232501063_232501073del, NC_000001.11:g.232501064_232501073del, NC_000001.11:g.232501065_232501073del, NC_000001.11:g.232501066_232501073del, NC_000001.11:g.232501067_232501073del, NC_000001.11:g.232501068_232501073del, NC_000001.11:g.232501069_232501073del, NC_000001.11:g.232501070_232501073del, NC_000001.11:g.232501071_232501073del, NC_000001.11:g.232501072_232501073del, NC_000001.11:g.232501073del, NC_000001.11:g.232501073dup, NC_000001.11:g.232501072_232501073dup, NC_000001.11:g.232501071_232501073dup, NC_000001.11:g.232501070_232501073dup, NC_000001.11:g.232501069_232501073dup, NC_000001.11:g.232501068_232501073dup, NC_000001.11:g.232501067_232501073dup, NC_000001.11:g.232501066_232501073dup, NC_000001.11:g.232501065_232501073dup, NC_000001.11:g.232501064_232501073dup, NC_000001.11:g.232501063_232501073dup, NC_000001.11:g.232501062_232501073dup, NC_000001.11:g.232501061_232501073dup, NC_000001.11:g.232501060_232501073dup, NC_000001.11:g.232501059_232501073dup, NC_000001.11:g.232501058_232501073dup, NC_000001.11:g.232501057_232501073dup, NC_000001.11:g.232501056_232501073dup, NC_000001.11:g.232501055_232501073dup, NC_000001.11:g.232501053_232501073dup, NC_000001.11:g.232501052_232501073dup, NC_000001.11:g.232501051_232501073dup, NC_000001.11:g.232501073_232501074insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232501073_232501074insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232501073_232501074insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232501073_232501074insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232501073_232501074insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.232501073_232501074insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232636809_232636819del, NC_000001.10:g.232636810_232636819del, NC_000001.10:g.232636811_232636819del, NC_000001.10:g.232636812_232636819del, NC_000001.10:g.232636813_232636819del, NC_000001.10:g.232636814_232636819del, NC_000001.10:g.232636815_232636819del, NC_000001.10:g.232636816_232636819del, NC_000001.10:g.232636817_232636819del, NC_000001.10:g.232636818_232636819del, NC_000001.10:g.232636819del, NC_000001.10:g.232636819dup, NC_000001.10:g.232636818_232636819dup, NC_000001.10:g.232636817_232636819dup, NC_000001.10:g.232636816_232636819dup, NC_000001.10:g.232636815_232636819dup, NC_000001.10:g.232636814_232636819dup, NC_000001.10:g.232636813_232636819dup, NC_000001.10:g.232636812_232636819dup, NC_000001.10:g.232636811_232636819dup, NC_000001.10:g.232636810_232636819dup, NC_000001.10:g.232636809_232636819dup, NC_000001.10:g.232636808_232636819dup, NC_000001.10:g.232636807_232636819dup, NC_000001.10:g.232636806_232636819dup, NC_000001.10:g.232636805_232636819dup, NC_000001.10:g.232636804_232636819dup, NC_000001.10:g.232636803_232636819dup, NC_000001.10:g.232636802_232636819dup, NC_000001.10:g.232636801_232636819dup, NC_000001.10:g.232636799_232636819dup, NC_000001.10:g.232636798_232636819dup, NC_000001.10:g.232636797_232636819dup, NC_000001.10:g.232636819_232636820insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232636819_232636820insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232636819_232636820insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232636819_232636820insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232636819_232636820insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.232636819_232636820insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149143750019.

rs1491437500 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:232495564 (GRCh38)
1:232631310 (GRCh37)
Canonical SPDI:: NC_000001.11:232495563:CA:
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000001.11:g.232495564_232495565del, NC_000001.10:g.232631310_232631311del

Select item 149140898820.

rs1491408988 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:232592808 (GRCh38)
1:232728554 (GRCh37)
Canonical SPDI:: NC_000001.11:232592807:GG:
Gene:: SIPA1L2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00027/4 (ALFA)
HGVS:: NC_000001.11:g.232592808_232592809del, NC_000001.10:g.232728554_232728555del, XM_047426139.1:c.-17575_-17574del

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