SNP Links for Gene (Select 11066) - SNP

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Select item 14914692481.

rs1491469248 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:123470473 (GRCh38)
12:123955020 (GRCh37)
Canonical SPDI:: NC_000012.12:123470472:CA:
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.123470473_123470474del, NC_000012.11:g.123955020_123955021del, NM_178314.5:c.*2064_*2065del, NM_001319302.2:c.*2064_*2065del, NM_001319243.2:c.*2203_*2204del, NM_001319244.2:c.*2064_*2065del

Select item 14914033832.

rs1491403383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:123471863 (GRCh38)
12:123956411 (GRCh37)
Canonical SPDI:: NC_000012.12:123471863:A:AA
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.123471864dup, NC_000012.11:g.123956411dup, NM_178314.5:c.*674dup, NM_178314.4:c.*674dup, NM_178314.3:c.*674dup, NM_001319302.2:c.*674dup, NM_001319302.1:c.*674dup, NM_001319243.2:c.*813dup, NM_001319243.1:c.*813dup, NM_001319244.2:c.*674dup, NM_001319244.1:c.*674dup, NR_104103.2:n.851dup, NR_104103.1:n.886dup

Select item 14913141453.

rs1491314145 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:123471865 (GRCh38)
12:123956412 (GRCh37)
Canonical SPDI:: NC_000012.12:123471862:CACA:CA
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.000094/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.123471863CA[1], NC_000012.11:g.123956410CA[1], NM_178314.5:c.*672TG[1], NM_178314.4:c.*672TG[1], NM_178314.3:c.*672TG[1], NM_001319302.2:c.*672TG[1], NM_001319302.1:c.*672TG[1], NM_001319243.2:c.*811TG[1], NM_001319243.1:c.*811TG[1], NM_001319244.2:c.*672TG[1], NM_001319244.1:c.*672TG[1], NR_104103.2:n.850CA[1], NR_104103.1:n.885CA[1]

Select item 14912724504.

rs1491272450 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 12:123466553 (GRCh38)
12:123951101 (GRCh37)
Canonical SPDI:: NC_000012.12:123466553:TTT:TTTCTTT
Gene:: SNRNP35 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.00003/1 (GnomAD)
HGVS:: NC_000012.12:g.123466556_123466557insCTTT, NC_000012.11:g.123951103_123951104insCTTT, NM_022717.4:c.*275_*276insCTTT

Select item 14912644125.

rs1491264412 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:123468376 (GRCh38)
12:123952923 (GRCh37)
Canonical SPDI:: NC_000012.12:123468374:AGA:A
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000506/6 (ALFA)
-=0.000251/33 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000012.12:g.123468376_123468377del, NC_000012.11:g.123952923_123952924del

Select item 14911658616.

rs1491165861 has merged into rs57574691 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:123470482 (GRCh38)
12:123955029 (GRCh37)
Canonical SPDI:: NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:123470473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.4525/2266 (1000Genomes)
HGVS:: NC_000012.12:g.123470482_123470493del, NC_000012.12:g.123470484_123470493del, NC_000012.12:g.123470485_123470493del, NC_000012.12:g.123470486_123470493del, NC_000012.12:g.123470487_123470493del, NC_000012.12:g.123470488_123470493del, NC_000012.12:g.123470489_123470493del, NC_000012.12:g.123470490_123470493del, NC_000012.12:g.123470491_123470493del, NC_000012.12:g.123470492_123470493del, NC_000012.12:g.123470493del, NC_000012.12:g.123470493dup, NC_000012.12:g.123470492_123470493dup, NC_000012.12:g.123470491_123470493dup, NC_000012.12:g.123470490_123470493dup, NC_000012.12:g.123470489_123470493dup, NC_000012.12:g.123470486_123470493dup, NC_000012.12:g.123470481_123470493dup, NC_000012.11:g.123955029_123955040del, NC_000012.11:g.123955031_123955040del, NC_000012.11:g.123955032_123955040del, NC_000012.11:g.123955033_123955040del, NC_000012.11:g.123955034_123955040del, NC_000012.11:g.123955035_123955040del, NC_000012.11:g.123955036_123955040del, NC_000012.11:g.123955037_123955040del, NC_000012.11:g.123955038_123955040del, NC_000012.11:g.123955039_123955040del, NC_000012.11:g.123955040del, NC_000012.11:g.123955040dup, NC_000012.11:g.123955039_123955040dup, NC_000012.11:g.123955038_123955040dup, NC_000012.11:g.123955037_123955040dup, NC_000012.11:g.123955036_123955040dup, NC_000012.11:g.123955033_123955040dup, NC_000012.11:g.123955028_123955040dup, NM_178314.5:c.*2053_*2064del, NM_178314.5:c.*2055_*2064del, NM_178314.5:c.*2056_*2064del, NM_178314.5:c.*2057_*2064del, NM_178314.5:c.*2058_*2064del, NM_178314.5:c.*2059_*2064del, NM_178314.5:c.*2060_*2064del, NM_178314.5:c.*2061_*2064del, NM_178314.5:c.*2062_*2064del, NM_178314.5:c.*2063_*2064del, NM_178314.5:c.*2064del, NM_178314.5:c.*2064dup, NM_178314.5:c.*2063_*2064dup, NM_178314.5:c.*2062_*2064dup, NM_178314.5:c.*2061_*2064dup, NM_178314.5:c.*2060_*2064dup, NM_178314.5:c.*2057_*2064dup, NM_178314.5:c.*2052_*2064dup, NM_001319302.2:c.*2053_*2064del, NM_001319302.2:c.*2055_*2064del, NM_001319302.2:c.*2056_*2064del, NM_001319302.2:c.*2057_*2064del, NM_001319302.2:c.*2058_*2064del, NM_001319302.2:c.*2059_*2064del, NM_001319302.2:c.*2060_*2064del, NM_001319302.2:c.*2061_*2064del, NM_001319302.2:c.*2062_*2064del, NM_001319302.2:c.*2063_*2064del, NM_001319302.2:c.*2064del, NM_001319302.2:c.*2064dup, NM_001319302.2:c.*2063_*2064dup, NM_001319302.2:c.*2062_*2064dup, NM_001319302.2:c.*2061_*2064dup, NM_001319302.2:c.*2060_*2064dup, NM_001319302.2:c.*2057_*2064dup, NM_001319302.2:c.*2052_*2064dup, NM_001319243.2:c.*2192_*2203del, NM_001319243.2:c.*2194_*2203del, NM_001319243.2:c.*2195_*2203del, NM_001319243.2:c.*2196_*2203del, NM_001319243.2:c.*2197_*2203del, NM_001319243.2:c.*2198_*2203del, NM_001319243.2:c.*2199_*2203del, NM_001319243.2:c.*2200_*2203del, NM_001319243.2:c.*2201_*2203del, NM_001319243.2:c.*2202_*2203del, NM_001319243.2:c.*2203del, NM_001319243.2:c.*2203dup, NM_001319243.2:c.*2202_*2203dup, NM_001319243.2:c.*2201_*2203dup, NM_001319243.2:c.*2200_*2203dup, NM_001319243.2:c.*2199_*2203dup, NM_001319243.2:c.*2196_*2203dup, NM_001319243.2:c.*2191_*2203dup, NM_001319244.2:c.*2053_*2064del, NM_001319244.2:c.*2055_*2064del, NM_001319244.2:c.*2056_*2064del, NM_001319244.2:c.*2057_*2064del, NM_001319244.2:c.*2058_*2064del, NM_001319244.2:c.*2059_*2064del, NM_001319244.2:c.*2060_*2064del, NM_001319244.2:c.*2061_*2064del, NM_001319244.2:c.*2062_*2064del, NM_001319244.2:c.*2063_*2064del, NM_001319244.2:c.*2064del, NM_001319244.2:c.*2064dup, NM_001319244.2:c.*2063_*2064dup, NM_001319244.2:c.*2062_*2064dup, NM_001319244.2:c.*2061_*2064dup, NM_001319244.2:c.*2060_*2064dup, NM_001319244.2:c.*2057_*2064dup, NM_001319244.2:c.*2052_*2064dup

Select item 14910875607.

rs1491087560 has merged into rs71088913 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:123461293 (GRCh38)
12:123945840 (GRCh37)
Canonical SPDI:: NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:123461282:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.123461293_123461299del, NC_000012.12:g.123461294_123461299del, NC_000012.12:g.123461295_123461299del, NC_000012.12:g.123461296_123461299del, NC_000012.12:g.123461297_123461299del, NC_000012.12:g.123461298_123461299del, NC_000012.12:g.123461299del, NC_000012.12:g.123461299dup, NC_000012.12:g.123461298_123461299dup, NC_000012.12:g.123461297_123461299dup, NC_000012.12:g.123461296_123461299dup, NC_000012.12:g.123461295_123461299dup, NC_000012.12:g.123461293_123461299dup, NC_000012.12:g.123461290_123461299dup, NC_000012.12:g.123461289_123461299dup, NC_000012.11:g.123945840_123945846del, NC_000012.11:g.123945841_123945846del, NC_000012.11:g.123945842_123945846del, NC_000012.11:g.123945843_123945846del, NC_000012.11:g.123945844_123945846del, NC_000012.11:g.123945845_123945846del, NC_000012.11:g.123945846del, NC_000012.11:g.123945846dup, NC_000012.11:g.123945845_123945846dup, NC_000012.11:g.123945844_123945846dup, NC_000012.11:g.123945843_123945846dup, NC_000012.11:g.123945842_123945846dup, NC_000012.11:g.123945840_123945846dup, NC_000012.11:g.123945837_123945846dup, NC_000012.11:g.123945836_123945846dup

Select item 14909593198.

rs1490959319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123460992 (GRCh38)
12:123945539 (GRCh37)
Canonical SPDI:: NC_000012.12:123460991:G:A
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.123460992G>A, NC_000012.11:g.123945539G>A

Select item 14908687079.

rs1490868707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:123463481 (GRCh38)
12:123948028 (GRCh37)
Canonical SPDI:: NC_000012.12:123463480:A:C
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001119/5 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00046/13 (TOMMO)
C=0.001116/5 (Estonian)
C=0.006502/19 (KOREAN)
HGVS:: NC_000012.12:g.123463481A>C, NC_000012.11:g.123948028A>C

Select item 149084355710.

rs1490843557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123463635 (GRCh38)
12:123948182 (GRCh37)
Canonical SPDI:: NC_000012.12:123463634:C:T
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000072/10 (GnomAD)
T=0.000446/2 (Estonian)
T=0.000684/2 (KOREAN)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000012.12:g.123463635C>T, NC_000012.11:g.123948182C>T

Select item 149070559211.

rs1490705592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:123467867 (GRCh38)
12:123952414 (GRCh37)
Canonical SPDI:: NC_000012.12:123467866:C:A
Gene:: SNRNP35 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.123467867C>A, NC_000012.11:g.123952414C>A

Select item 148984100912.

rs1489841009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:123460754 (GRCh38)
12:123945301 (GRCh37)
Canonical SPDI:: NC_000012.12:123460753:A:G
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.123460754A>G, NC_000012.11:g.123945301A>G

Select item 148975802113.

rs1489758021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:123461838 (GRCh38)
12:123946385 (GRCh37)
Canonical SPDI:: NC_000012.12:123461837:C:G
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.123461838C>G, NC_000012.11:g.123946385C>G

Select item 148963905214.

rs1489639052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:123466660 (GRCh38)
12:123951207 (GRCh37)
Canonical SPDI:: NC_000012.12:123466659:T:A
Gene:: SNRNP35 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.123466660T>A, NC_000012.11:g.123951207T>A, NM_022717.4:c.*379T>A

Select item 148962377815.

rs1489623778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:123468078 (GRCh38)
12:123952625 (GRCh37)
Canonical SPDI:: NC_000012.12:123468077:G:C
Gene:: SNRNP35 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.123468078G>C, NC_000012.11:g.123952625G>C

Select item 148941300916.

rs1489413009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:123456945 (GRCh38)
12:123941492 (GRCh37)
Canonical SPDI:: NC_000012.12:123456944:G:C
Gene:: SNRNP35 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.123456945G>C, NC_000012.11:g.123941492G>C

Select item 148918328417.

rs1489183284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:123456596 (GRCh38)
12:123941143 (GRCh37)
Canonical SPDI:: NC_000012.12:123456595:C:G
Gene:: SNRNP35 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.123456596C>G, NC_000012.11:g.123941143C>G

Select item 148901226318.

rs1489012263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:123463419 (GRCh38)
12:123947966 (GRCh37)
Canonical SPDI:: NC_000012.12:123463418:C:A,NC_000012.12:123463418:C:T
Gene:: SNRNP35 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.123463419C>A, NC_000012.12:g.123463419C>T, NC_000012.11:g.123947966C>A, NC_000012.11:g.123947966C>T

Select item 148885771819.

rs1488857718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:123457535 (GRCh38)
12:123942082 (GRCh37)
Canonical SPDI:: NC_000012.12:123457534:G:A,NC_000012.12:123457534:G:T
Gene:: SNRNP35 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD)
A=0.004801/14 (KOREAN)
HGVS:: NC_000012.12:g.123457535G>A, NC_000012.12:g.123457535G>T, NC_000012.11:g.123942082G>A, NC_000012.11:g.123942082G>T

Select item 148866119120.

rs1488661191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:123470378 (GRCh38)
12:123954925 (GRCh37)
Canonical SPDI:: NC_000012.12:123470377:T:C,NC_000012.12:123470377:T:G
Gene:: SNRNP35 (Varview), RILPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.123470378T>C, NC_000012.12:g.123470378T>G, NC_000012.11:g.123954925T>C, NC_000012.11:g.123954925T>G, NM_178314.5:c.*2160A>G, NM_178314.5:c.*2160A>C, NM_001319302.2:c.*2160A>G, NM_001319302.2:c.*2160A>C, NM_001319243.2:c.*2299A>G, NM_001319243.2:c.*2299A>C, NM_001319244.2:c.*2160A>G, NM_001319244.2:c.*2160A>C

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