SNP Links for Gene (Select 51593) - SNP

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Select item 14915326481.

rs1491532648 has merged into rs869150232 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:100877429 (GRCh38)
7:100475050 (GRCh37)
Canonical SPDI:: NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:100877419:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.100877429_100877441del, NC_000007.14:g.100877430_100877441del, NC_000007.14:g.100877432_100877441del, NC_000007.14:g.100877433_100877441del, NC_000007.14:g.100877434_100877441del, NC_000007.14:g.100877435_100877441del, NC_000007.14:g.100877436_100877441del, NC_000007.14:g.100877437_100877441del, NC_000007.14:g.100877438_100877441del, NC_000007.14:g.100877439_100877441del, NC_000007.14:g.100877440_100877441del, NC_000007.14:g.100877441del, NC_000007.14:g.100877441dup, NC_000007.14:g.100877440_100877441dup, NC_000007.14:g.100877439_100877441dup, NC_000007.14:g.100877438_100877441dup, NC_000007.14:g.100877436_100877441dup, NC_000007.14:g.100877432_100877441dup, NC_000007.13:g.100475050_100475062del, NC_000007.13:g.100475051_100475062del, NC_000007.13:g.100475053_100475062del, NC_000007.13:g.100475054_100475062del, NC_000007.13:g.100475055_100475062del, NC_000007.13:g.100475056_100475062del, NC_000007.13:g.100475057_100475062del, NC_000007.13:g.100475058_100475062del, NC_000007.13:g.100475059_100475062del, NC_000007.13:g.100475060_100475062del, NC_000007.13:g.100475061_100475062del, NC_000007.13:g.100475062del, NC_000007.13:g.100475062dup, NC_000007.13:g.100475061_100475062dup, NC_000007.13:g.100475060_100475062dup, NC_000007.13:g.100475059_100475062dup, NC_000007.13:g.100475057_100475062dup, NC_000007.13:g.100475053_100475062dup

Select item 14914092342.

rs1491409234 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:100881142 (GRCh38)
7:100478763 (GRCh37)
Canonical SPDI:: NC_000007.14:100881140:GCG:G
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.100881142_100881143del, NC_000007.13:g.100478763_100478764del

Select item 14912804373.

rs1491280437 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:100881141 (GRCh38)
7:100478763 (GRCh37)
Canonical SPDI:: NC_000007.14:100881141::T
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000061/8 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.100881141_100881142insT, NC_000007.13:g.100478762_100478763insT

Select item 14911671784.

rs1491167178 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:100877419 (GRCh38)
7:100475040 (GRCh37)
Canonical SPDI:: NC_000007.14:100877418:CA:
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00835/99 (ALFA)
HGVS:: NC_000007.14:g.100877419_100877420del, NC_000007.13:g.100475040_100475041del

Select item 14911635585.

rs1491163558 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:100887727 (GRCh38)
7:100485348 (GRCh37)
Canonical SPDI:: NC_000007.14:100887724:ATAT:AT
Gene:: SRRT (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.100887725AT[1], NC_000007.13:g.100485346AT[1], NM_015908.6:c.2194_2195del, NM_015908.5:c.2194_2195del, XM_005250405.3:c.2215_2216del, XM_005250405.2:c.2215_2216del, XM_005250405.1:c.2215_2216del, XM_005250407.3:c.2215_2216del, XM_005250407.2:c.2215_2216del, XM_005250407.1:c.2215_2216del, XM_005250406.3:c.2212_2213del, XM_005250406.2:c.2212_2213del, XM_005250406.1:c.2212_2213del, NM_182800.2:c.1954_1955del, NM_001128852.2:c.2191_2192del, NM_001128852.1:c.2191_2192del, NM_001128853.2:c.2194_2195del, NM_001128853.1:c.2194_2195del, NM_001128854.2:c.2191_2192del, NM_001128854.1:c.2191_2192del, XM_005250408.2:c.2212_2213del, XM_005250408.1:c.2212_2213del, NM_182800.1:c.1954_1955del, XM_047420459.1:c.1957_1958del, XM_047420460.1:c.1954_1955del, NP_056992.4:p.Ile732fs, XP_005250462.1:p.Ile739fs, XP_005250464.1:p.Ile739fs, XP_005250463.1:p.Ile738fs, NP_001122324.1:p.Ile731fs, NP_001122325.1:p.Ile732fs, NP_001122326.1:p.Ile731fs, XP_005250465.1:p.Ile738fs, XP_047276415.1:p.Ile653fs, XP_047276416.1:p.Ile652fs

Select item 14911293756.

rs1491129375 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:100883469 (GRCh38)
7:100481090 (GRCh37)
Canonical SPDI:: NC_000007.14:100883468:CT:
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.100883469_100883470del, NC_000007.13:g.100481090_100481091del

Select item 14910891797.

rs1491089179 has merged into rs57137266 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 7:100881150 (GRCh38)
7:100478771 (GRCh37)
Canonical SPDI:: NC_000007.14:100881142:GGGGGGGGG:GGGGGGG,NC_000007.14:100881142:GGGGGGGGG:GGGGGGGG,NC_000007.14:100881142:GGGGGGGGG:GGGGGGGGGG,NC_000007.14:100881142:GGGGGGGGG:GGGGGGGGGGG,NC_000007.14:100881142:GGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000007.14:100881142:GGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000007.14:100881142:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
G=0.09625/482 (1000Genomes)
G=0.375/3 (KOREAN)
HGVS:: NC_000007.14:g.100881150_100881151del, NC_000007.14:g.100881151del, NC_000007.14:g.100881151dup, NC_000007.14:g.100881150_100881151dup, NC_000007.14:g.100881145_100881151dup, NC_000007.14:g.100881144_100881151dup, NC_000007.14:g.100881151_100881152insGGGGGGGGGGGGGGGG, NC_000007.13:g.100478771_100478772del, NC_000007.13:g.100478772del, NC_000007.13:g.100478772dup, NC_000007.13:g.100478771_100478772dup, NC_000007.13:g.100478766_100478772dup, NC_000007.13:g.100478765_100478772dup, NC_000007.13:g.100478772_100478773insGGGGGGGGGGGGGGGG

Select item 14909174688.

rs1490917468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100886540 (GRCh38)
7:100484161 (GRCh37)
Canonical SPDI:: NC_000007.14:100886539:G:A
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.100886540G>A, NC_000007.13:g.100484161G>A

Select item 14908009319.

rs1490800931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100881096 (GRCh38)
7:100478717 (GRCh37)
Canonical SPDI:: NC_000007.14:100881095:T:C
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000022/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.100881096T>C, NC_000007.13:g.100478717T>C

Select item 149062114010.

rs1490621140 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:100879896 (GRCh38)
7:100477517 (GRCh37)
Canonical SPDI:: NC_000007.14:100879895:GG:G
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100879897del, NC_000007.13:g.100477518del

Select item 149036895011.

rs1490368950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:100882819 (GRCh38)
7:100480440 (GRCh37)
Canonical SPDI:: NC_000007.14:100882818:T:A,NC_000007.14:100882818:T:C
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00232/26 (ALFA)
C=0.00331/6 (Korea1K)
C=0.01731/50 (KOREAN)
HGVS:: NC_000007.14:g.100882819T>A, NC_000007.14:g.100882819T>C, NC_000007.13:g.100480440T>A, NC_000007.13:g.100480440T>C

Select item 149006939512.

rs1490069395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100883088 (GRCh38)
7:100480709 (GRCh37)
Canonical SPDI:: NC_000007.14:100883087:A:G
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100883088A>G, NC_000007.13:g.100480709A>G

Select item 149000329113.

rs1490003291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:100874872 (GRCh38)
7:100472494 (GRCh37)
Canonical SPDI:: NC_000007.14:100874871:A:T
Gene:: SRRT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000007.14:g.100874872A>T, NC_000007.13:g.100472494A>T

Select item 148966486114.

rs1489664861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100878854 (GRCh38)
7:100476475 (GRCh37)
Canonical SPDI:: NC_000007.14:100878853:A:G
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.100878854A>G, NC_000007.13:g.100476475A>G

Select item 148954562915.

rs1489545629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100874263 (GRCh38)
7:100471885 (GRCh37)
Canonical SPDI:: NC_000007.14:100874262:C:T
Gene:: SRRT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.100874263C>T, NC_000007.13:g.100471885C>T

Select item 148945785016.

rs1489457850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100873630 (GRCh38)
7:100471252 (GRCh37)
Canonical SPDI:: NC_000007.14:100873629:G:A
Gene:: TRIP6 (Varview), SRRT (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.001027/3 (KOREAN)
HGVS:: NC_000007.14:g.100873630G>A, NC_000007.13:g.100471252G>A

Select item 148942961017.

rs1489429610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100878514 (GRCh38)
7:100476135 (GRCh37)
Canonical SPDI:: NC_000007.14:100878513:G:C
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100878514G>C, NC_000007.13:g.100476135G>C

Select item 148888644418.

rs1488886444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:100880713 (GRCh38)
7:100478334 (GRCh37)
Canonical SPDI:: NC_000007.14:100880712:G:T
Gene:: SRRT (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
HGVS:: NC_000007.14:g.100880713G>T, NC_000007.13:g.100478334G>T, NM_182800.2:c.-172G>T, NM_182800.1:c.-172G>T, XM_047420459.1:c.-172G>T, XM_047420460.1:c.-172G>T

Select item 148888543919.

rs1488885439 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:100875596 (GRCh38)
7:100473218 (GRCh37)
Canonical SPDI:: NC_000007.14:100875596:G:GG
Gene:: SRRT (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000007.14:g.100875597dup, NC_000007.13:g.100473218dup, NM_015908.6:c.7dup, NM_015908.5:c.7dup, XM_005250405.3:c.28dup, XM_005250405.2:c.28dup, XM_005250405.1:c.28dup, XM_005250407.3:c.28dup, XM_005250407.2:c.28dup, XM_005250407.1:c.28dup, XM_005250406.3:c.28dup, XM_005250406.2:c.28dup, XM_005250406.1:c.28dup, NM_182800.2:c.-305dup, NM_001128852.2:c.7dup, NM_001128852.1:c.7dup, NM_001128853.2:c.7dup, NM_001128853.1:c.7dup, NM_001128854.2:c.7dup, NM_001128854.1:c.7dup, XM_005250408.2:c.28dup, XM_005250408.1:c.28dup, NM_182800.1:c.-305dup, XM_047420459.1:c.-305dup, XM_047420460.1:c.-305dup, NP_056992.4:p.Asp3fs, XP_005250462.1:p.Asp10fs, XP_005250464.1:p.Asp10fs, XP_005250463.1:p.Asp10fs, NP_001122324.1:p.Asp3fs, NP_001122325.1:p.Asp3fs, NP_001122326.1:p.Asp3fs, XP_005250465.1:p.Asp10fs

Select item 148884990520.

rs1488849905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100878404 (GRCh38)
7:100476025 (GRCh37)
Canonical SPDI:: NC_000007.14:100878403:C:T
Gene:: SRRT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.100878404C>T, NC_000007.13:g.100476025C>T

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