SNP Links for Gene (Select 55342) - SNP

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Select item 14915677341.

rs1491567734 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,TG [Show Flanks]
Chromosome:: 9:123234996 (GRCh38)
9:125997276 (GRCh37)
Canonical SPDI:: NC_000009.12:123234996::A,NC_000009.12:123234996::TG
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/3 (GnomAD)
HGVS:: NC_000009.12:g.123234996_123234997insA, NC_000009.12:g.123234996_123234997insTG, NC_000009.11:g.125997275_125997276insA, NC_000009.11:g.125997275_125997276insTG

Select item 14915663212.

rs1491566321 has merged into rs869051755 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:123240301 (GRCh38)
9:126002580 (GRCh37)
Canonical SPDI:: NC_000009.12:123240297:TATAT:TAT
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000038/4 (GnomAD)
-=0.000663/1 (Korea1K)
HGVS:: NC_000009.12:g.123240299AT[1], NC_000009.11:g.126002578AT[1]

Select item 14915625473.

rs1491562547 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:123158528 (GRCh38)
9:125920807 (GRCh37)
Canonical SPDI:: NC_000009.12:123158527:GA:
Gene:: STRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000123/2 (ALFA)
-=0.000071/9 (GnomAD)
-=0.000459/2 (Estonian)
HGVS:: NC_000009.12:g.123158528_123158529del, NC_000009.11:g.125920807_125920808del

Select item 14915164744.

rs1491516474 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:123186825 (GRCh38)
9:125949104 (GRCh37)
Canonical SPDI:: NC_000009.12:123186824:TA:
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00056/32 (GnomAD)
-=0.00071/11 (TOMMO)
-=0.00175/3 (Korea1K)
HGVS:: NC_000009.12:g.123186825_123186826del, NC_000009.11:g.125949104_125949105del

Select item 14915005955.

rs1491500595 has merged into rs1421211226 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 9:123214145 (GRCh38)
9:125976424 (GRCh37)
Canonical SPDI:: NC_000009.12:123214142:TATA:TA,NC_000009.12:123214142:TATA:TATATA
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
TA=0.00006/1 (TOMMO)
-=0.00047/3 (1000Genomes)
HGVS:: NC_000009.12:g.123214143TA[1], NC_000009.12:g.123214143TA[3], NC_000009.11:g.125976422TA[1], NC_000009.11:g.125976422TA[3]

Select item 14914943106.

rs1491494310 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:123259062 (GRCh38)
9:126021341 (GRCh37)
Canonical SPDI:: NC_000009.12:123259061:CA:
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00043/7 (TOMMO)
HGVS:: NC_000009.12:g.123259062_123259063del, NC_000009.11:g.126021341_126021342del

Select item 14914440087.

rs1491444008 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:123197667 (GRCh38)
9:125959946 (GRCh37)
Canonical SPDI:: NC_000009.12:123197665:TCT:T
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
-=0.000043/5 (GnomAD)
HGVS:: NC_000009.12:g.123197667_123197668del, NC_000009.11:g.125959946_125959947del

Select item 14914314138.

rs1491431413 has merged into rs55960341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 9:123121961 (GRCh38)
9:125884240 (GRCh37)
Canonical SPDI:: NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000009.12:123121948:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC
Gene:: STRBP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
HGVS:: NC_000009.12:g.123121949AC[6], NC_000009.12:g.123121949AC[7], NC_000009.12:g.123121949AC[8], NC_000009.12:g.123121949AC[9], NC_000009.12:g.123121949AC[10], NC_000009.12:g.123121949AC[11], NC_000009.12:g.123121949AC[12], NC_000009.12:g.123121949AC[14], NC_000009.12:g.123121949AC[15], NC_000009.12:g.123121949AC[16], NC_000009.12:g.123121949AC[17], NC_000009.12:g.123121949AC[18], NC_000009.11:g.125884228AC[6], NC_000009.11:g.125884228AC[7], NC_000009.11:g.125884228AC[8], NC_000009.11:g.125884228AC[9], NC_000009.11:g.125884228AC[10], NC_000009.11:g.125884228AC[11], NC_000009.11:g.125884228AC[12], NC_000009.11:g.125884228AC[14], NC_000009.11:g.125884228AC[15], NC_000009.11:g.125884228AC[16], NC_000009.11:g.125884228AC[17], NC_000009.11:g.125884228AC[18], NM_018387.5:c.*3623GT[6], NM_018387.5:c.*3623GT[7], NM_018387.5:c.*3623GT[8], NM_018387.5:c.*3623GT[9], NM_018387.5:c.*3623GT[10], NM_018387.5:c.*3623GT[11], NM_018387.5:c.*3623GT[12], NM_018387.5:c.*3623GT[14], NM_018387.5:c.*3623GT[15], NM_018387.5:c.*3623GT[16], NM_018387.5:c.*3623GT[17], NM_018387.5:c.*3623GT[18], NM_018387.4:c.*3623GT[6], NM_018387.4:c.*3623GT[7], NM_018387.4:c.*3623GT[8], NM_018387.4:c.*3623GT[9], NM_018387.4:c.*3623GT[10], NM_018387.4:c.*3623GT[11], NM_018387.4:c.*3623GT[12], NM_018387.4:c.*3623GT[14], NM_018387.4:c.*3623GT[15], NM_018387.4:c.*3623GT[16], NM_018387.4:c.*3623GT[17], NM_018387.4:c.*3623GT[18], NM_001171137.2:c.*3623GT[6], NM_001171137.2:c.*3623GT[7], NM_001171137.2:c.*3623GT[8], NM_001171137.2:c.*3623GT[9], NM_001171137.2:c.*3623GT[10], NM_001171137.2:c.*3623GT[11], NM_001171137.2:c.*3623GT[12], NM_001171137.2:c.*3623GT[14], NM_001171137.2:c.*3623GT[15], NM_001171137.2:c.*3623GT[16], NM_001171137.2:c.*3623GT[17], NM_001171137.2:c.*3623GT[18], NM_001171137.1:c.*3623GT[6], NM_001171137.1:c.*3623GT[7], NM_001171137.1:c.*3623GT[8], NM_001171137.1:c.*3623GT[9], NM_001171137.1:c.*3623GT[10], NM_001171137.1:c.*3623GT[11], NM_001171137.1:c.*3623GT[12], NM_001171137.1:c.*3623GT[14], NM_001171137.1:c.*3623GT[15], NM_001171137.1:c.*3623GT[16], NM_001171137.1:c.*3623GT[17], NM_001171137.1:c.*3623GT[18], NR_033234.2:n.6019GT[6], NR_033234.2:n.6019GT[7], NR_033234.2:n.6019GT[8], NR_033234.2:n.6019GT[9], NR_033234.2:n.6019GT[10], NR_033234.2:n.6019GT[11], NR_033234.2:n.6019GT[12], NR_033234.2:n.6019GT[14], NR_033234.2:n.6019GT[15], NR_033234.2:n.6019GT[16], NR_033234.2:n.6019GT[17], NR_033234.2:n.6019GT[18], NR_033234.1:n.5997GT[6], NR_033234.1:n.5997GT[7], NR_033234.1:n.5997GT[8], NR_033234.1:n.5997GT[9], NR_033234.1:n.5997GT[10], NR_033234.1:n.5997GT[11], NR_033234.1:n.5997GT[12], NR_033234.1:n.5997GT[14], NR_033234.1:n.5997GT[15], NR_033234.1:n.5997GT[16], NR_033234.1:n.5997GT[17], NR_033234.1:n.5997GT[18], XM_047423562.1:c.*3623GT[6], XM_047423562.1:c.*3623GT[7], XM_047423562.1:c.*3623GT[8], XM_047423562.1:c.*3623GT[9], XM_047423562.1:c.*3623GT[10], XM_047423562.1:c.*3623GT[11], XM_047423562.1:c.*3623GT[12], XM_047423562.1:c.*3623GT[14], XM_047423562.1:c.*3623GT[15], XM_047423562.1:c.*3623GT[16], XM_047423562.1:c.*3623GT[17], XM_047423562.1:c.*3623GT[18], XM_047423563.1:c.*3623GT[6], XM_047423563.1:c.*3623GT[7], XM_047423563.1:c.*3623GT[8], XM_047423563.1:c.*3623GT[9], XM_047423563.1:c.*3623GT[10], XM_047423563.1:c.*3623GT[11], XM_047423563.1:c.*3623GT[12], XM_047423563.1:c.*3623GT[14], XM_047423563.1:c.*3623GT[15], XM_047423563.1:c.*3623GT[16], XM_047423563.1:c.*3623GT[17], XM_047423563.1:c.*3623GT[18], NM_001376109.1:c.*348GT[6], NM_001376109.1:c.*348GT[7], NM_001376109.1:c.*348GT[8], NM_001376109.1:c.*348GT[9], NM_001376109.1:c.*348GT[10], NM_001376109.1:c.*348GT[11], NM_001376109.1:c.*348GT[12], NM_001376109.1:c.*348GT[14], NM_001376109.1:c.*348GT[15], NM_001376109.1:c.*348GT[16], NM_001376109.1:c.*348GT[17], NM_001376109.1:c.*348GT[18]

Select item 14914295129.

rs1491429512 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:123234997 (GRCh38)
9:125997277 (GRCh37)
Canonical SPDI:: NC_000009.12:123234997::T
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
T=0.0007/14 (GnomAD)
HGVS:: NC_000009.12:g.123234997_123234998insT, NC_000009.11:g.125997276_125997277insT

Select item 149141672110.

rs1491416721 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA [Show Flanks]
Chromosome:: 9:123186825 (GRCh38)
9:125949105 (GRCh37)
Canonical SPDI:: NC_000009.12:123186825::TA,NC_000009.12:123186825::TTA
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000009.12:g.123186825_123186826insTA, NC_000009.12:g.123186825_123186826insTTA, NC_000009.11:g.125949104_125949105insTA, NC_000009.11:g.125949104_125949105insTTA

Select item 149138811311.

rs1491388113 has merged into rs56654612 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:123258811 (GRCh38)
9:126021090 (GRCh37)
Canonical SPDI:: NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:123258800:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.4319/2163 (1000Genomes)
HGVS:: NC_000009.12:g.123258811_123258819del, NC_000009.12:g.123258812_123258819del, NC_000009.12:g.123258814_123258819del, NC_000009.12:g.123258815_123258819del, NC_000009.12:g.123258816_123258819del, NC_000009.12:g.123258817_123258819del, NC_000009.12:g.123258818_123258819del, NC_000009.12:g.123258819del, NC_000009.12:g.123258819dup, NC_000009.12:g.123258818_123258819dup, NC_000009.12:g.123258817_123258819dup, NC_000009.12:g.123258816_123258819dup, NC_000009.11:g.126021090_126021098del, NC_000009.11:g.126021091_126021098del, NC_000009.11:g.126021093_126021098del, NC_000009.11:g.126021094_126021098del, NC_000009.11:g.126021095_126021098del, NC_000009.11:g.126021096_126021098del, NC_000009.11:g.126021097_126021098del, NC_000009.11:g.126021098del, NC_000009.11:g.126021098dup, NC_000009.11:g.126021097_126021098dup, NC_000009.11:g.126021096_126021098dup, NC_000009.11:g.126021095_126021098dup

Select item 149134287512.

rs1491342875 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:123251127 (GRCh38)
9:126013406 (GRCh37)
Canonical SPDI:: NC_000009.12:123251122:CTCTCT:CTCT
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.123251123CT[2], NC_000009.11:g.126013402CT[2]

Select item 149131891713.

rs1491318917 has merged into rs59261791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA [Show Flanks]
Chromosome:: 9:123169887 (GRCh38)
9:125932166 (GRCh37)
Canonical SPDI:: NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000009.12:123169873:ATATATATATATATATATA:ATATATATATATATATATATATATATATATA
Gene:: STRBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
ATATATATATAT=0.000004/1 (TOPMED)
-=0.5/18 (GENOME_DK)
HGVS:: NC_000009.12:g.123169875TA[6], NC_000009.12:g.123169875TA[7], NC_000009.12:g.123169875TA[8], NC_000009.12:g.123169875TA[10], NC_000009.12:g.123169875TA[11], NC_000009.12:g.123169875TA[12], NC_000009.12:g.123169875TA[13], NC_000009.12:g.123169875TA[14], NC_000009.12:g.123169875TA[15], NC_000009.11:g.125932154TA[6], NC_000009.11:g.125932154TA[7], NC_000009.11:g.125932154TA[8], NC_000009.11:g.125932154TA[10], NC_000009.11:g.125932154TA[11], NC_000009.11:g.125932154TA[12], NC_000009.11:g.125932154TA[13], NC_000009.11:g.125932154TA[14], NC_000009.11:g.125932154TA[15]

Select item 149124090814.

rs1491240908 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:123241195 (GRCh38)
9:126003475 (GRCh37)
Canonical SPDI:: NC_000009.12:123241195::T
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.123241195_123241196insT, NC_000009.11:g.126003474_126003475insT

Select item 149122876515.

rs1491228765 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCTCTGTTTCTTTCTCTGTCT [Show Flanks]
Chromosome:: 9:123251123 (GRCh38)
9:126013403 (GRCh37)
Canonical SPDI:: NC_000009.12:123251123:TCTCTGTCTGTCTCTGTTTCTTTCTCTGTCT:TCTCTGTCTGTCTCTGTTTCTTTCTCTGTCTGTCTCTGTTTCTTTCTCTGTCT
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTGTCTGTCTCTGTTTCTTTCTCTGTCTGTCTCTGTTTCTTTCTCTGTCT=0./0 (ALFA)
TCTCTGTCTGTCTCTGTTTCTT=0.000014/2 (GnomAD)
TCTCTGTCTGTCTCTGTTTCTT=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.123251133_123251154dup, NC_000009.11:g.126013412_126013433dup

Select item 149122785416.

rs1491227854 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:123187953 (GRCh38)
9:125950232 (GRCh37)
Canonical SPDI:: NC_000009.12:123187952:TA:
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000009.12:g.123187953_123187954del, NC_000009.11:g.125950232_125950233del

Select item 149122540617.

rs1491225406 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 9:123214186 (GRCh38)
9:125976465 (GRCh37)
Canonical SPDI:: NC_000009.12:123214183:AAAA:AA,NC_000009.12:123214183:AAAA:AAAAAA
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00109/2 (Korea1K)
HGVS:: NC_000009.12:g.123214186_123214187del, NC_000009.12:g.123214186_123214187dup, NC_000009.11:g.125976465_125976466del, NC_000009.11:g.125976465_125976466dup

Select item 149122385118.

rs1491223851 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:123234996 (GRCh38)
9:125997275 (GRCh37)
Canonical SPDI:: NC_000009.12:123234995:TG:
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00029/25 (GnomAD)
HGVS:: NC_000009.12:g.123234996_123234997del, NC_000009.11:g.125997275_125997276del

Select item 149120399019.

rs1491203990 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:123197666 (GRCh38)
9:125959946 (GRCh37)
Canonical SPDI:: NC_000009.12:123197666:C:CC
Gene:: STRBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000009.12:g.123197667dup, NC_000009.11:g.125959946dup

Select item 149118544220.

rs1491185442 has merged into rs71388358 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:123197677 (GRCh38)
9:125959956 (GRCh37)
Canonical SPDI:: NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:123197667:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STRBP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.123197677_123197692del, NC_000009.12:g.123197678_123197692del, NC_000009.12:g.123197679_123197692del, NC_000009.12:g.123197680_123197692del, NC_000009.12:g.123197681_123197692del, NC_000009.12:g.123197682_123197692del, NC_000009.12:g.123197683_123197692del, NC_000009.12:g.123197684_123197692del, NC_000009.12:g.123197685_123197692del, NC_000009.12:g.123197686_123197692del, NC_000009.12:g.123197687_123197692del, NC_000009.12:g.123197688_123197692del, NC_000009.12:g.123197689_123197692del, NC_000009.12:g.123197690_123197692del, NC_000009.12:g.123197691_123197692del, NC_000009.12:g.123197692del, NC_000009.12:g.123197692dup, NC_000009.12:g.123197691_123197692dup, NC_000009.12:g.123197690_123197692dup, NC_000009.12:g.123197689_123197692dup, NC_000009.12:g.123197688_123197692dup, NC_000009.12:g.123197687_123197692dup, NC_000009.12:g.123197686_123197692dup, NC_000009.12:g.123197685_123197692dup, NC_000009.12:g.123197684_123197692dup, NC_000009.12:g.123197683_123197692dup, NC_000009.12:g.123197682_123197692dup, NC_000009.12:g.123197681_123197692dup, NC_000009.12:g.123197679_123197692dup, NC_000009.12:g.123197677_123197692dup, NC_000009.12:g.123197692_123197693insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123197692_123197693insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.123197692_123197693insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.125959956_125959971del, NC_000009.11:g.125959957_125959971del, NC_000009.11:g.125959958_125959971del, NC_000009.11:g.125959959_125959971del, NC_000009.11:g.125959960_125959971del, NC_000009.11:g.125959961_125959971del, NC_000009.11:g.125959962_125959971del, NC_000009.11:g.125959963_125959971del, NC_000009.11:g.125959964_125959971del, NC_000009.11:g.125959965_125959971del, NC_000009.11:g.125959966_125959971del, NC_000009.11:g.125959967_125959971del, NC_000009.11:g.125959968_125959971del, NC_000009.11:g.125959969_125959971del, NC_000009.11:g.125959970_125959971del, NC_000009.11:g.125959971del, NC_000009.11:g.125959971dup, NC_000009.11:g.125959970_125959971dup, NC_000009.11:g.125959969_125959971dup, NC_000009.11:g.125959968_125959971dup, NC_000009.11:g.125959967_125959971dup, NC_000009.11:g.125959966_125959971dup, NC_000009.11:g.125959965_125959971dup, NC_000009.11:g.125959964_125959971dup, NC_000009.11:g.125959963_125959971dup, NC_000009.11:g.125959962_125959971dup, NC_000009.11:g.125959961_125959971dup, NC_000009.11:g.125959960_125959971dup, NC_000009.11:g.125959958_125959971dup, NC_000009.11:g.125959956_125959971dup, NC_000009.11:g.125959971_125959972insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.125959971_125959972insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.125959971_125959972insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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