SNP Links for Gene (Select 391253) - SNP

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Select item 14915300231.

rs1491530023 has merged into rs1168670011 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:45724989 (GRCh38)
20:44353628 (GRCh37)
Canonical SPDI:: NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:45724979:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0165/7 (NorthernSweden)
HGVS:: NC_000020.11:g.45724989_45724996del, NC_000020.11:g.45724991_45724996del, NC_000020.11:g.45724992_45724996del, NC_000020.11:g.45724993_45724996del, NC_000020.11:g.45724994_45724996del, NC_000020.11:g.45724995_45724996del, NC_000020.11:g.45724996del, NC_000020.11:g.45724996dup, NC_000020.11:g.45724995_45724996dup, NC_000020.11:g.45724994_45724996dup, NC_000020.11:g.45724993_45724996dup, NC_000020.11:g.45724992_45724996dup, NC_000020.11:g.45724991_45724996dup, NC_000020.11:g.45724990_45724996dup, NC_000020.11:g.45724989_45724996dup, NC_000020.11:g.45724988_45724996dup, NC_000020.11:g.45724987_45724996dup, NC_000020.11:g.45724986_45724996dup, NC_000020.11:g.45724985_45724996dup, NC_000020.11:g.45724984_45724996dup, NC_000020.11:g.45724983_45724996dup, NC_000020.11:g.45724982_45724996dup, NC_000020.11:g.45724981_45724996dup, NC_000020.11:g.45724980_45724996dup, NC_000020.11:g.45724996_45724997insAAAAAAAAAAAAAAAAAA, NC_000020.11:g.45724996_45724997insAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.45724996_45724997insAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.45724996_45724997insAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.45724996_45724997insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.45724996_45724997insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44353628_44353635del, NC_000020.10:g.44353630_44353635del, NC_000020.10:g.44353631_44353635del, NC_000020.10:g.44353632_44353635del, NC_000020.10:g.44353633_44353635del, NC_000020.10:g.44353634_44353635del, NC_000020.10:g.44353635del, NC_000020.10:g.44353635dup, NC_000020.10:g.44353634_44353635dup, NC_000020.10:g.44353633_44353635dup, NC_000020.10:g.44353632_44353635dup, NC_000020.10:g.44353631_44353635dup, NC_000020.10:g.44353630_44353635dup, NC_000020.10:g.44353629_44353635dup, NC_000020.10:g.44353628_44353635dup, NC_000020.10:g.44353627_44353635dup, NC_000020.10:g.44353626_44353635dup, NC_000020.10:g.44353625_44353635dup, NC_000020.10:g.44353624_44353635dup, NC_000020.10:g.44353623_44353635dup, NC_000020.10:g.44353622_44353635dup, NC_000020.10:g.44353621_44353635dup, NC_000020.10:g.44353620_44353635dup, NC_000020.10:g.44353619_44353635dup, NC_000020.10:g.44353635_44353636insAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44353635_44353636insAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44353635_44353636insAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44353635_44353636insAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44353635_44353636insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.44353635_44353636insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912467952.

rs1491246795 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:45724979 (GRCh38)
20:44353618 (GRCh37)
Canonical SPDI:: NC_000020.11:45724978:CA:
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.45724979_45724980del, NC_000020.10:g.44353618_44353619del

Select item 14911336283.

rs1491133628 has merged into rs145282788 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA,TATATATA [Show Flanks]
Chromosome:: 20:45720482 (GRCh38)
20:44349121 (GRCh37)
Canonical SPDI:: NC_000020.11:45720470:ATATATATATATA:ATATATATATA,NC_000020.11:45720470:ATATATATATATA:ATATATATATATATA,NC_000020.11:45720470:ATATATATATATA:ATATATATATATATATA,NC_000020.11:45720470:ATATATATATATA:ATATATATATATATATATA
Gene:: SPINT4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATA=0./0 (ALFA)
AT=0.3/12 (GENOME_DK)
-=0.3656/1831 (1000Genomes)
AT=0.4048/404 (GoNL)
AT=0.4152/1860 (Estonian)
AT=0.435/261 (NorthernSweden)
HGVS:: NC_000020.11:g.45720472TA[5], NC_000020.11:g.45720472TA[7], NC_000020.11:g.45720472TA[8], NC_000020.11:g.45720472TA[9], NC_000020.10:g.44349111TA[5], NC_000020.10:g.44349111TA[7], NC_000020.10:g.44349111TA[8], NC_000020.10:g.44349111TA[9]

Select item 14901254824.

rs1490125482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:45720708 (GRCh38)
20:44349347 (GRCh37)
Canonical SPDI:: NC_000020.11:45720707:G:C
Gene:: SPINT4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45720708G>C, NC_000020.10:g.44349347G>C

Select item 14901004235.

rs1490100423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45723482 (GRCh38)
20:44352121 (GRCh37)
Canonical SPDI:: NC_000020.11:45723481:C:T
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.45723482C>T, NC_000020.10:g.44352121C>T

Select item 14898876666.

rs1489887666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45723901 (GRCh38)
20:44352540 (GRCh37)
Canonical SPDI:: NC_000020.11:45723900:A:G
Gene:: SPINT4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45723901A>G, NC_000020.10:g.44352540A>G, NM_178455.3:c.137A>G, NM_178455.2:c.137A>G, NM_178455.1:c.137A>G, NP_848550.1:p.Asn46Ser

Select item 14887024447.

rs1488702444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45726314 (GRCh38)
20:44354953 (GRCh37)
Canonical SPDI:: NC_000020.11:45726313:T:C
Gene:: SPINT4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45726314T>C, NC_000020.10:g.44354953T>C

Select item 14885497318.

rs1488549731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:45724991 (GRCh38)
20:44353630 (GRCh37)
Canonical SPDI:: NC_000020.11:45724990:A:T
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00015/2 (TOMMO)
HGVS:: NC_000020.11:g.45724991A>T, NC_000020.10:g.44353630A>T

Select item 14882359709.

rs1488235970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45721922 (GRCh38)
20:44350561 (GRCh37)
Canonical SPDI:: NC_000020.11:45721921:A:G
Gene:: SPINT4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45721922A>G, NC_000020.10:g.44350561A>G

Select item 148761812410.

rs1487618124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:45723031 (GRCh38)
20:44351670 (GRCh37)
Canonical SPDI:: NC_000020.11:45723030:G:T
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.45723031G>T, NC_000020.10:g.44351670G>T

Select item 148714019511.

rs1487140195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:45725077 (GRCh38)
20:44353716 (GRCh37)
Canonical SPDI:: NC_000020.11:45725076:C:G,NC_000020.11:45725076:C:T
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.45725077C>G, NC_000020.11:g.45725077C>T, NC_000020.10:g.44353716C>G, NC_000020.10:g.44353716C>T

Select item 148633311312.

rs1486333113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:45723500 (GRCh38)
20:44352139 (GRCh37)
Canonical SPDI:: NC_000020.11:45723499:A:T
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45723500A>T, NC_000020.10:g.44352139A>T

Select item 148627283613.

rs1486272836 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 20:45722909 (GRCh38)
20:44351548 (GRCh37)
Canonical SPDI:: NC_000020.11:45722908:T:
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45722909del, NC_000020.10:g.44351548del

Select item 148597862814.

rs1485978628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:45725033 (GRCh38)
20:44353672 (GRCh37)
Canonical SPDI:: NC_000020.11:45725032:G:C,NC_000020.11:45725032:G:T
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00055/9 (ALFA)
C=0.00004/3 (GnomAD)
T=0.00113/19 (TOMMO)
HGVS:: NC_000020.11:g.45725033G>C, NC_000020.11:g.45725033G>T, NC_000020.10:g.44353672G>C, NC_000020.10:g.44353672G>T

Select item 148467805515.

rs1484678055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45725635 (GRCh38)
20:44354274 (GRCh37)
Canonical SPDI:: NC_000020.11:45725634:A:G
Gene:: SPINT4 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45725635A>G, NC_000020.10:g.44354274A>G, NM_178455.3:c.300A>G, NM_178455.2:c.300A>G, NM_178455.1:c.300A>G, NP_848550.1:p.Ter100Trp

Select item 148463990516.

rs1484639905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45723463 (GRCh38)
20:44352102 (GRCh37)
Canonical SPDI:: NC_000020.11:45723462:T:C
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000011/1 (GnomAD)
HGVS:: NC_000020.11:g.45723463T>C, NC_000020.10:g.44352102T>C

Select item 148440428617.

rs1484404286 [Homo sapiens]

Variant type:: DEL
Alleles:: TATATAT>- [Show Flanks]
Chromosome:: 20:45724997 (GRCh38)
20:44353636 (GRCh37)
Canonical SPDI:: NC_000020.11:45724996:TATATAT:
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000020.11:g.45724997_45725003del, NC_000020.10:g.44353636_44353642del

Select item 148390430918.

rs1483904309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45721749 (GRCh38)
20:44350388 (GRCh37)
Canonical SPDI:: NC_000020.11:45721748:A:G
Gene:: SPINT4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45721749A>G, NC_000020.10:g.44350388A>G

Select item 148285785919.

rs1482857859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45725299 (GRCh38)
20:44353938 (GRCh37)
Canonical SPDI:: NC_000020.11:45725298:A:G
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45725299A>G, NC_000020.10:g.44353938A>G

Select item 148222131220.

rs1482221312 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 20:45725047 (GRCh38)
20:44353686 (GRCh37)
Canonical SPDI:: NC_000020.11:45725046:TTTTT:TTTT
Gene:: SPINT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45725051del, NC_000020.10:g.44353690del

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