SNP Links for Gene (Select 80124) - SNP

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Select item 14915017751.

rs1491501775 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTGTAT,GTGTGTAT,GTGTGTGTAT [Show Flanks]
Chromosome:: 8:66669157 (GRCh38)
8:67581393 (GRCh37)
Canonical SPDI:: NC_000008.11:66669157:T:TGTAT,NC_000008.11:66669157:T:TGTGTAT,NC_000008.11:66669157:T:TGTGTGTAT,NC_000008.11:66669157:T:TGTGTGTGTAT
Gene:: C8orf44 (Varview), VCPIP1 (Varview), C8orf44-SGK3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTAT=0./0 (ALFA)
HGVS:: NC_000008.11:g.66669158_66669159insGTAT, NC_000008.11:g.66669158TG[2]TAT[1], NC_000008.11:g.66669158TG[3]TAT[1], NC_000008.11:g.66669158TG[4]TAT[1], NC_000008.10:g.67581393_67581394insGTAT, NC_000008.10:g.67581393TG[2]TAT[1], NC_000008.10:g.67581393TG[3]TAT[1], NC_000008.10:g.67581393TG[4]TAT[1]

Select item 14914834252.

rs1491483425 has merged into rs1180259925 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:66636247 (GRCh38)
8:67548482 (GRCh37)
Canonical SPDI:: NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66636236:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAA=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.66636247_66636260del, NC_000008.11:g.66636248_66636260del, NC_000008.11:g.66636249_66636260del, NC_000008.11:g.66636250_66636260del, NC_000008.11:g.66636251_66636260del, NC_000008.11:g.66636252_66636260del, NC_000008.11:g.66636253_66636260del, NC_000008.11:g.66636254_66636260del, NC_000008.11:g.66636255_66636260del, NC_000008.11:g.66636256_66636260del, NC_000008.11:g.66636257_66636260del, NC_000008.11:g.66636258_66636260del, NC_000008.11:g.66636259_66636260del, NC_000008.11:g.66636260del, NC_000008.11:g.66636260dup, NC_000008.11:g.66636259_66636260dup, NC_000008.11:g.66636258_66636260dup, NC_000008.11:g.66636257_66636260dup, NC_000008.11:g.66636256_66636260dup, NC_000008.11:g.66636255_66636260dup, NC_000008.11:g.66636252_66636260dup, NC_000008.11:g.66636260_66636261insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.67548482_67548495del, NC_000008.10:g.67548483_67548495del, NC_000008.10:g.67548484_67548495del, NC_000008.10:g.67548485_67548495del, NC_000008.10:g.67548486_67548495del, NC_000008.10:g.67548487_67548495del, NC_000008.10:g.67548488_67548495del, NC_000008.10:g.67548489_67548495del, NC_000008.10:g.67548490_67548495del, NC_000008.10:g.67548491_67548495del, NC_000008.10:g.67548492_67548495del, NC_000008.10:g.67548493_67548495del, NC_000008.10:g.67548494_67548495del, NC_000008.10:g.67548495del, NC_000008.10:g.67548495dup, NC_000008.10:g.67548494_67548495dup, NC_000008.10:g.67548493_67548495dup, NC_000008.10:g.67548492_67548495dup, NC_000008.10:g.67548491_67548495dup, NC_000008.10:g.67548490_67548495dup, NC_000008.10:g.67548487_67548495dup, NC_000008.10:g.67548495_67548496insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914503193.

rs1491450319 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:66648443 (GRCh38)
8:67560679 (GRCh37)
Canonical SPDI:: NC_000008.11:66648443:A:AA
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.66648444dup, NC_000008.10:g.67560679dup

Select item 14914496894.

rs1491449689 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:66669119 (GRCh38)
8:67581354 (GRCh37)
Canonical SPDI:: NC_000008.11:66669118:TT:
Gene:: C8orf44 (Varview), VCPIP1 (Varview), C8orf44-SGK3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000008.11:g.66669119_66669120del, NC_000008.10:g.67581354_67581355del

Select item 14913835935.

rs1491383593 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:66636236 (GRCh38)
8:67548471 (GRCh37)
Canonical SPDI:: NC_000008.11:66636235:CA:
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.66636236_66636237del, NC_000008.10:g.67548471_67548472del

Select item 14913701876.

rs1491370187 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,TGTGTGT,TTGT,TTGTGT,TTGTGTGT,TTGTGTGTGT,TTGTGTGTGTGT,TTGTGTGTGTGTGT,TTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:66669119 (GRCh38)
8:67581355 (GRCh37)
Canonical SPDI:: NC_000008.11:66669119:T:TAT,NC_000008.11:66669119:T:TTGTGTGT,NC_000008.11:66669119:T:TTTGT,NC_000008.11:66669119:T:TTTGTGT,NC_000008.11:66669119:T:TTTGTGTGT,NC_000008.11:66669119:T:TTTGTGTGTGT,NC_000008.11:66669119:T:TTTGTGTGTGTGT,NC_000008.11:66669119:T:TTTGTGTGTGTGTGT,NC_000008.11:66669119:T:TTTGTGTGTGTGTGTGT,NC_000008.11:66669119:T:TTTGTGTGTGTGTGTGTGT,NC_000008.11:66669119:T:TTTGTGTGTGTGTGTGTGTGTGT
Gene:: C8orf44 (Varview), VCPIP1 (Varview), C8orf44-SGK3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTGTGT=0./0 (ALFA)
HGVS:: NC_000008.11:g.66669120_66669121insAT, NC_000008.11:g.66669120_66669121insTGTGTGT, NC_000008.11:g.66669120_66669121insTTGT, NC_000008.11:g.66669120_66669121insTTGTGT, NC_000008.11:g.66669120_66669121insTTGTGTGT, NC_000008.11:g.66669120_66669121insTTGTGTGTGT, NC_000008.11:g.66669120_66669121insTTGTGTGTGTGT, NC_000008.11:g.66669120_66669121insTTGTGTGTGTGTGT, NC_000008.11:g.66669120_66669121insTTGTGTGTGTGTGTGT, NC_000008.11:g.66669120_66669121insTTGTGTGTGTGTGTGTGT, NC_000008.11:g.66669120_66669121insTTGTGTGTGTGTGTGTGTGTGT, NC_000008.10:g.67581355_67581356insAT, NC_000008.10:g.67581355_67581356insTGTGTGT, NC_000008.10:g.67581355_67581356insTTGT, NC_000008.10:g.67581355_67581356insTTGTGT, NC_000008.10:g.67581355_67581356insTTGTGTGT, NC_000008.10:g.67581355_67581356insTTGTGTGTGT, NC_000008.10:g.67581355_67581356insTTGTGTGTGTGT, NC_000008.10:g.67581355_67581356insTTGTGTGTGTGTGT, NC_000008.10:g.67581355_67581356insTTGTGTGTGTGTGTGT, NC_000008.10:g.67581355_67581356insTTGTGTGTGTGTGTGTGT, NC_000008.10:g.67581355_67581356insTTGTGTGTGTGTGTGTGTGTGT

Select item 14913699047.

rs1491369904 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:66648444 (GRCh38)
8:67560679 (GRCh37)
Canonical SPDI:: NC_000008.11:66648442:TAT:T
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.66648444_66648445del, NC_000008.10:g.67560679_67560680del

Select item 14912258208.

rs1491225820 has merged into rs896750189 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:66651195 (GRCh38)
8:67563430 (GRCh37)
Canonical SPDI:: NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:66651185:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000049/13 (TOPMED)
HGVS:: NC_000008.11:g.66651195_66651204del, NC_000008.11:g.66651196_66651204del, NC_000008.11:g.66651197_66651204del, NC_000008.11:g.66651198_66651204del, NC_000008.11:g.66651199_66651204del, NC_000008.11:g.66651201_66651204del, NC_000008.11:g.66651202_66651204del, NC_000008.11:g.66651203_66651204del, NC_000008.11:g.66651204del, NC_000008.11:g.66651204dup, NC_000008.11:g.66651203_66651204dup, NC_000008.11:g.66651202_66651204dup, NC_000008.11:g.66651201_66651204dup, NC_000008.11:g.66651200_66651204dup, NC_000008.11:g.66651199_66651204dup, NC_000008.11:g.66651198_66651204dup, NC_000008.11:g.66651197_66651204dup, NC_000008.11:g.66651193_66651204dup, NC_000008.11:g.66651192_66651204dup, NC_000008.11:g.66651187_66651204dup, NC_000008.10:g.67563430_67563439del, NC_000008.10:g.67563431_67563439del, NC_000008.10:g.67563432_67563439del, NC_000008.10:g.67563433_67563439del, NC_000008.10:g.67563434_67563439del, NC_000008.10:g.67563436_67563439del, NC_000008.10:g.67563437_67563439del, NC_000008.10:g.67563438_67563439del, NC_000008.10:g.67563439del, NC_000008.10:g.67563439dup, NC_000008.10:g.67563438_67563439dup, NC_000008.10:g.67563437_67563439dup, NC_000008.10:g.67563436_67563439dup, NC_000008.10:g.67563435_67563439dup, NC_000008.10:g.67563434_67563439dup, NC_000008.10:g.67563433_67563439dup, NC_000008.10:g.67563432_67563439dup, NC_000008.10:g.67563428_67563439dup, NC_000008.10:g.67563427_67563439dup, NC_000008.10:g.67563422_67563439dup

Select item 14911870949.

rs1491187094 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:66651185 (GRCh38)
8:67563420 (GRCh37)
Canonical SPDI:: NC_000008.11:66651184:CA:
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.66651185_66651186del, NC_000008.10:g.67563420_67563421del

Select item 149094398410.

rs1490943984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:66654226 (GRCh38)
8:67566461 (GRCh37)
Canonical SPDI:: NC_000008.11:66654225:A:C
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.66654226A>C, NC_000008.10:g.67566461A>C

Select item 149080618811.

rs1490806188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:66646876 (GRCh38)
8:67559111 (GRCh37)
Canonical SPDI:: NC_000008.11:66646875:T:C
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.66646876T>C, NC_000008.10:g.67559111T>C

Select item 149056743512.

rs1490567435 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 8:66630742 (GRCh38)
8:67542977 (GRCh37)
Canonical SPDI:: NC_000008.11:66630737:AACAAACA:AACA
Gene:: VCPIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AACAAACA=0./0 (ALFA)
HGVS:: NC_000008.11:g.66630738AACA[1], NC_000008.10:g.67542973AACA[1], NM_025054.5:c.*3756TGTT[1], NM_025054.4:c.*3756TGTT[1]

Select item 149052025413.

rs1490520254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:66660888 (GRCh38)
8:67573124 (GRCh37)
Canonical SPDI:: NC_000008.11:66660888:AAAAA:AAAAAA
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.66660893dup, NC_000008.10:g.67573128dup

Select item 149050085014.

rs1490500850 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGGCA [Show Flanks]
Chromosome:: 8:66638250 (GRCh38)
8:67550486 (GRCh37)
Canonical SPDI:: NC_000008.11:66638250:GAGGCAGAGGCA:GAGGCAGAGGCAGAGGCA
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGGCAGAGGCAGAGGCA=0./0 (ALFA)
GAGGCA=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.66638251GAGGCA[3], NC_000008.10:g.67550486GAGGCA[3]

Select item 149047161615.

rs1490471616 has merged into rs750894538 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 8:66638952 (GRCh38)
8:67551187 (GRCh37)
Canonical SPDI:: NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000008.11:66638936:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000008.11:g.66638938CT[7], NC_000008.11:g.66638938CT[8], NC_000008.11:g.66638938CT[9], NC_000008.11:g.66638938CT[10], NC_000008.11:g.66638938CT[11], NC_000008.11:g.66638938CT[12], NC_000008.11:g.66638938CT[13], NC_000008.11:g.66638938CT[14], NC_000008.11:g.66638938CT[15], NC_000008.11:g.66638938CT[16], NC_000008.11:g.66638938CT[18], NC_000008.11:g.66638938CT[19], NC_000008.11:g.66638938CT[20], NC_000008.11:g.66638938CT[21], NC_000008.11:g.66638938CT[22], NC_000008.11:g.66638938CT[23], NC_000008.11:g.66638938CT[24], NC_000008.11:g.66638938CT[25], NC_000008.11:g.66638938CT[26], NC_000008.11:g.66638938CT[27], NC_000008.11:g.66638938CT[28], NC_000008.11:g.66638938CT[29], NC_000008.11:g.66638938CT[30], NC_000008.11:g.66638938CT[31], NC_000008.11:g.66638938CT[32], NC_000008.10:g.67551173CT[7], NC_000008.10:g.67551173CT[8], NC_000008.10:g.67551173CT[9], NC_000008.10:g.67551173CT[10], NC_000008.10:g.67551173CT[11], NC_000008.10:g.67551173CT[12], NC_000008.10:g.67551173CT[13], NC_000008.10:g.67551173CT[14], NC_000008.10:g.67551173CT[15], NC_000008.10:g.67551173CT[16], NC_000008.10:g.67551173CT[18], NC_000008.10:g.67551173CT[19], NC_000008.10:g.67551173CT[20], NC_000008.10:g.67551173CT[21], NC_000008.10:g.67551173CT[22], NC_000008.10:g.67551173CT[23], NC_000008.10:g.67551173CT[24], NC_000008.10:g.67551173CT[25], NC_000008.10:g.67551173CT[26], NC_000008.10:g.67551173CT[27], NC_000008.10:g.67551173CT[28], NC_000008.10:g.67551173CT[29], NC_000008.10:g.67551173CT[30], NC_000008.10:g.67551173CT[31], NC_000008.10:g.67551173CT[32]

Select item 149045830616.

rs1490458306 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTGTT>- [Show Flanks]
Chromosome:: 8:66664747 (GRCh38)
8:67576982 (GRCh37)
Canonical SPDI:: NC_000008.11:66664741:TTGTTCTTGTT:TTGTT
Gene:: VCPIP1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.66664747_66664752del, NC_000008.10:g.67576982_67576987del, NM_025054.5:c.2212_2217del, NM_025054.4:c.2212_2217del, NP_079330.2:p.Glu738_Gln739del

Select item 149045261617.

rs1490452616 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:66653727 (GRCh38)
8:67565962 (GRCh37)
Canonical SPDI:: NC_000008.11:66653724:GTGT:GT
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.66653725GT[1], NC_000008.10:g.67565960GT[1]

Select item 149029058318.

rs1490290583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:66630598 (GRCh38)
8:67542833 (GRCh37)
Canonical SPDI:: NC_000008.11:66630597:T:C
Gene:: VCPIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000035/1 (TOMMO)
C=0.000053/14 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000008.11:g.66630598T>C, NC_000008.10:g.67542833T>C, NM_025054.5:c.*3903A>G, NM_025054.4:c.*3903A>G

Select item 149022040719.

rs1490220407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:66655589 (GRCh38)
8:67567824 (GRCh37)
Canonical SPDI:: NC_000008.11:66655588:A:C
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.66655589A>C, NC_000008.10:g.67567824A>C

Select item 149017226320.

rs1490172263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:66638937 (GRCh38)
8:67551172 (GRCh37)
Canonical SPDI:: NC_000008.11:66638936:T:C
Gene:: VCPIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.66638937T>C, NC_000008.10:g.67551172T>C

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