SNP Links for Gene (Select 58516) - SNP

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Select item 14915242201.

rs1491524220 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 12:31302488 (GRCh38)
12:31455422 (GRCh37)
Canonical SPDI:: NC_000012.12:31302487:TC:
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.01239/208 (TOMMO)
HGVS:: NC_000012.12:g.31302488_31302489del, NC_000012.11:g.31455422_31455423del, NT_187587.1:g.193282_193283del

Select item 14915090992.

rs1491509099 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14914549503.

rs1491454950 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 12:31304120 (GRCh38)
12:31457055 (GRCh37)
Canonical SPDI:: NC_000012.12:31304120:A:AGA
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.00038/2 (GnomAD)
HGVS:: NC_000012.12:g.31304121_31304122insGA, NC_000012.11:g.31457055_31457056insGA, NT_187587.1:g.194915_194916insGA

Select item 14914432984.

rs1491443298 has merged into rs761861557 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:31304131 (GRCh38)
12:31457065 (GRCh37)
Canonical SPDI:: NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31304119:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.31304131_31304137del, NC_000012.12:g.31304132_31304137del, NC_000012.12:g.31304133_31304137del, NC_000012.12:g.31304134_31304137del, NC_000012.12:g.31304135_31304137del, NC_000012.12:g.31304136_31304137del, NC_000012.12:g.31304137del, NC_000012.12:g.31304137dup, NC_000012.12:g.31304136_31304137dup, NC_000012.12:g.31304135_31304137dup, NC_000012.12:g.31304134_31304137dup, NC_000012.12:g.31304133_31304137dup, NC_000012.12:g.31304132_31304137dup, NC_000012.12:g.31304131_31304137dup, NC_000012.12:g.31304130_31304137dup, NC_000012.12:g.31304129_31304137dup, NC_000012.12:g.31304128_31304137dup, NC_000012.12:g.31304127_31304137dup, NC_000012.12:g.31304124_31304137dup, NC_000012.12:g.31304123_31304137dup, NC_000012.12:g.31304137_31304138insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.31304137_31304138insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.31457065_31457071del, NC_000012.11:g.31457066_31457071del, NC_000012.11:g.31457067_31457071del, NC_000012.11:g.31457068_31457071del, NC_000012.11:g.31457069_31457071del, NC_000012.11:g.31457070_31457071del, NC_000012.11:g.31457071del, NC_000012.11:g.31457071dup, NC_000012.11:g.31457070_31457071dup, NC_000012.11:g.31457069_31457071dup, NC_000012.11:g.31457068_31457071dup, NC_000012.11:g.31457067_31457071dup, NC_000012.11:g.31457066_31457071dup, NC_000012.11:g.31457065_31457071dup, NC_000012.11:g.31457064_31457071dup, NC_000012.11:g.31457063_31457071dup, NC_000012.11:g.31457062_31457071dup, NC_000012.11:g.31457061_31457071dup, NC_000012.11:g.31457058_31457071dup, NC_000012.11:g.31457057_31457071dup, NC_000012.11:g.31457071_31457072insAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.31457071_31457072insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187587.1:g.194925_194931del, NT_187587.1:g.194926_194931del, NT_187587.1:g.194927_194931del, NT_187587.1:g.194928_194931del, NT_187587.1:g.194929_194931del, NT_187587.1:g.194930_194931del, NT_187587.1:g.194931del, NT_187587.1:g.194931dup, NT_187587.1:g.194930_194931dup, NT_187587.1:g.194929_194931dup, NT_187587.1:g.194928_194931dup, NT_187587.1:g.194927_194931dup, NT_187587.1:g.194926_194931dup, NT_187587.1:g.194925_194931dup, NT_187587.1:g.194924_194931dup, NT_187587.1:g.194923_194931dup, NT_187587.1:g.194922_194931dup, NT_187587.1:g.194921_194931dup, NT_187587.1:g.194918_194931dup, NT_187587.1:g.194917_194931dup, NT_187587.1:g.194931_194932insAAAAAAAAAAAAAAAAAAAAAA, NT_187587.1:g.194931_194932insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914431055.

rs1491443105 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACC [Show Flanks]
Chromosome:: 12:31302488 (GRCh38)
12:31455423 (GRCh37)
Canonical SPDI:: NC_000012.12:31302488:CAACC:CAACCAACC
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAACCAACC=0./0 (ALFA)
CAAC=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.31302490_31302493dup, NC_000012.11:g.31455424_31455427dup, NT_187587.1:g.193284_193287dup

Select item 14914031326.

rs1491403132 has merged into rs57162055 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 12:31283867 (GRCh38)
12:31436801 (GRCh37)
Canonical SPDI:: NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:31283855:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.31283857CA[5], NC_000012.12:g.31283857CA[6], NC_000012.12:g.31283857CA[7], NC_000012.12:g.31283857CA[8], NC_000012.12:g.31283857CA[9], NC_000012.12:g.31283857CA[10], NC_000012.12:g.31283857CA[11], NC_000012.12:g.31283857CA[12], NC_000012.12:g.31283857CA[13], NC_000012.12:g.31283857CA[14], NC_000012.12:g.31283857CA[15], NC_000012.12:g.31283857CA[16], NC_000012.12:g.31283857CA[17], NC_000012.12:g.31283857CA[19], NC_000012.12:g.31283857CA[20], NC_000012.12:g.31283857CA[21], NC_000012.12:g.31283857CA[22], NC_000012.12:g.31283857CA[23], NC_000012.12:g.31283857CA[24], NC_000012.12:g.31283857CA[25], NC_000012.12:g.31283857CA[26], NC_000012.12:g.31283857CA[27], NC_000012.12:g.31283857CA[28], NC_000012.12:g.31283857CA[29], NC_000012.12:g.31283857CA[30], NC_000012.11:g.31436791CA[5], NC_000012.11:g.31436791CA[6], NC_000012.11:g.31436791CA[7], NC_000012.11:g.31436791CA[8], NC_000012.11:g.31436791CA[9], NC_000012.11:g.31436791CA[10], NC_000012.11:g.31436791CA[11], NC_000012.11:g.31436791CA[12], NC_000012.11:g.31436791CA[13], NC_000012.11:g.31436791CA[14], NC_000012.11:g.31436791CA[15], NC_000012.11:g.31436791CA[16], NC_000012.11:g.31436791CA[17], NC_000012.11:g.31436791CA[19], NC_000012.11:g.31436791CA[20], NC_000012.11:g.31436791CA[21], NC_000012.11:g.31436791CA[22], NC_000012.11:g.31436791CA[23], NC_000012.11:g.31436791CA[24], NC_000012.11:g.31436791CA[25], NC_000012.11:g.31436791CA[26], NC_000012.11:g.31436791CA[27], NC_000012.11:g.31436791CA[28], NC_000012.11:g.31436791CA[29], NC_000012.11:g.31436791CA[30], NT_187587.1:g.174651CA[5], NT_187587.1:g.174651CA[6], NT_187587.1:g.174651CA[7], NT_187587.1:g.174651CA[8], NT_187587.1:g.174651CA[9], NT_187587.1:g.174651CA[10], NT_187587.1:g.174651CA[11], NT_187587.1:g.174651CA[12], NT_187587.1:g.174651CA[13], NT_187587.1:g.174651CA[14], NT_187587.1:g.174651CA[15], NT_187587.1:g.174651CA[16], NT_187587.1:g.174651CA[17], NT_187587.1:g.174651CA[19], NT_187587.1:g.174651CA[20], NT_187587.1:g.174651CA[21], NT_187587.1:g.174651CA[22], NT_187587.1:g.174651CA[23], NT_187587.1:g.174651CA[24], NT_187587.1:g.174651CA[25], NT_187587.1:g.174651CA[26], NT_187587.1:g.174651CA[27], NT_187587.1:g.174651CA[28], NT_187587.1:g.174651CA[29], NT_187587.1:g.174651CA[30]

Select item 14913621707.

rs1491362170 has merged into rs912660001 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTT>-,GTTTTGTTTT [Show Flanks]
Chromosome:: 12:31290724 (GRCh38)
12:31443658 (GRCh37)
Canonical SPDI:: NC_000012.12:31290709:TTTTGTTTTGTTTTGTTTT:TTTTGTTTTGTTTT,NC_000012.12:31290709:TTTTGTTTTGTTTTGTTTT:TTTTGTTTTGTTTTGTTTTGTTTT
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTGTTTTGTTTTGTTTTGTTTT=0./0 (ALFA)
TTTTG=0.000035/1 (TOMMO)
-=0.000937/6 (1000Genomes)
-=0.001776/470 (TOPMED)
HGVS:: NC_000012.12:g.31290714GTTTT[2], NC_000012.12:g.31290714GTTTT[4], NC_000012.11:g.31443648GTTTT[2], NC_000012.11:g.31443648GTTTT[4], NT_187587.1:g.181508GTTTT[2], NT_187587.1:g.181508GTTTT[4]

Select item 14913231588.

rs1491323158 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:31307559 (GRCh38)
12:31460494 (GRCh37)
Canonical SPDI:: NC_000012.12:31307559:G:GG
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000015/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.31307560dup, NC_000012.11:g.31460494dup, NT_187587.1:g.198354dup

Select item 14912737229.

rs1491273722 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:31312356 (GRCh38)
12:31465290 (GRCh37)
Canonical SPDI:: NC_000012.12:31312353:TTTT:TT
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.31312356_31312357del, NC_000012.11:g.31465290_31465291del, NT_187587.1:g.203150_203151del

Select item 149125485310.

rs1491254853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 12:31283856 (GRCh38)
12:31436791 (GRCh37)
Canonical SPDI:: NC_000012.12:31283856:C:CGC
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CG=0.04854/20 (GnomAD)
HGVS:: NC_000012.12:g.31283857_31283858insGC, NC_000012.11:g.31436791_31436792insGC, NT_187587.1:g.174651_174652insGC

Select item 149125229911.

rs1491252299 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:31309127 (GRCh38)
12:31462061 (GRCh37)
Canonical SPDI:: NC_000012.12:31309126:CA:
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00396/47 (ALFA)
HGVS:: NC_000012.12:g.31309127_31309128del, NC_000012.11:g.31462061_31462062del, NT_187587.1:g.199921_199922del

Select item 149124978612.

rs1491249786 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:31297467 (GRCh38)
12:31450401 (GRCh37)
Canonical SPDI:: NC_000012.12:31297466:AT:
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.31297467_31297468del, NC_000012.11:g.31450401_31450402del, NT_187587.1:g.188261_188262del

Select item 149119341113.

rs1491193411 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 12:31312354 (GRCh38)
12:31465289 (GRCh37)
Canonical SPDI:: NC_000012.12:31312354:T:TGT
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000012.12:g.31312355_31312356insGT, NC_000012.11:g.31465289_31465290insGT, NT_187587.1:g.203149_203150insGT

Select item 149115911714.

rs1491159117 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:31290712 (GRCh38)
12:31443646 (GRCh37)
Canonical SPDI:: NC_000012.12:31290708:TTTTT:TTT
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.31290712_31290713del, NC_000012.11:g.31443646_31443647del, NT_187587.1:g.181506_181507del

Select item 149113634215.

rs1491136342 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 12:31290525 (GRCh38)
12:31443460 (GRCh37)
Canonical SPDI:: NC_000012.12:31290525:TA:TACTA
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TACTA=0.000084/1 (ALFA)
TAC=0.000068/18 (TOPMED)
HGVS:: NC_000012.12:g.31290527_31290528insCTA, NC_000012.11:g.31443461_31443462insCTA, NT_187587.1:g.181321_181322insCTA

Select item 149109338616.

rs1491093386 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:31321992 (GRCh38)
12:31474926 (GRCh37)
Canonical SPDI:: NC_000012.12:31321991:GA:
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000057/15 (TOPMED)
-=0.000065/9 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.31321992_31321993del, NC_000012.11:g.31474926_31474927del, NT_187587.1:g.212786_212787del

Select item 149108652917.

rs1491086529 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:31283893 (GRCh38)
12:31436827 (GRCh37)
Canonical SPDI:: NC_000012.12:31283891:AGA:A
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000066/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.31283893_31283894del, NC_000012.11:g.31436827_31436828del, NT_187587.1:g.174687_174688del

Select item 149108011518.

rs1491080115 has merged into rs34544624 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:31318658 (GRCh38)
12:31471592 (GRCh37)
Canonical SPDI:: NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:31318651:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.375/15 (GENOME_DK)
A=0.3864/1935 (1000Genomes)
A=0.4237/1571 (TWINSUK)
A=0.4315/1663 (ALSPAC)
HGVS:: NC_000012.12:g.31318658_31318664del, NC_000012.12:g.31318660_31318664del, NC_000012.12:g.31318661_31318664del, NC_000012.12:g.31318662_31318664del, NC_000012.12:g.31318663_31318664del, NC_000012.12:g.31318664del, NC_000012.12:g.31318664dup, NC_000012.12:g.31318663_31318664dup, NC_000012.12:g.31318662_31318664dup, NC_000012.12:g.31318659_31318664dup, NC_000012.12:g.31318657_31318664dup, NC_000012.11:g.31471592_31471598del, NC_000012.11:g.31471594_31471598del, NC_000012.11:g.31471595_31471598del, NC_000012.11:g.31471596_31471598del, NC_000012.11:g.31471597_31471598del, NC_000012.11:g.31471598del, NC_000012.11:g.31471598dup, NC_000012.11:g.31471597_31471598dup, NC_000012.11:g.31471596_31471598dup, NC_000012.11:g.31471593_31471598dup, NC_000012.11:g.31471591_31471598dup, NT_187587.1:g.209452_209458del, NT_187587.1:g.209454_209458del, NT_187587.1:g.209455_209458del, NT_187587.1:g.209456_209458del, NT_187587.1:g.209457_209458del, NT_187587.1:g.209458del, NT_187587.1:g.209458dup, NT_187587.1:g.209457_209458dup, NT_187587.1:g.209456_209458dup, NT_187587.1:g.209453_209458dup, NT_187587.1:g.209451_209458dup

Select item 149103230019.

rs1491032300 has merged into rs34769347 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:31285983 (GRCh38)
12:31438917 (GRCh37)
Canonical SPDI:: NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:31285974:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.00845/5 (NorthernSweden)
A=0.125/1 (KOREAN)
HGVS:: NC_000012.12:g.31285983_31285991del, NC_000012.12:g.31285988_31285991del, NC_000012.12:g.31285989_31285991del, NC_000012.12:g.31285990_31285991del, NC_000012.12:g.31285991del, NC_000012.12:g.31285991dup, NC_000012.12:g.31285990_31285991dup, NC_000012.12:g.31285989_31285991dup, NC_000012.11:g.31438917_31438925del, NC_000012.11:g.31438922_31438925del, NC_000012.11:g.31438923_31438925del, NC_000012.11:g.31438924_31438925del, NC_000012.11:g.31438925del, NC_000012.11:g.31438925dup, NC_000012.11:g.31438924_31438925dup, NC_000012.11:g.31438923_31438925dup, NT_187587.1:g.176777_176785del, NT_187587.1:g.176782_176785del, NT_187587.1:g.176783_176785del, NT_187587.1:g.176784_176785del, NT_187587.1:g.176785del, NT_187587.1:g.176785dup, NT_187587.1:g.176784_176785dup, NT_187587.1:g.176783_176785dup

Select item 149097354220.

rs1490973542 has merged into rs999169211 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:31286670 (GRCh38)
12:31439604 (GRCh37)
Canonical SPDI:: NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:31286662:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SINHCAF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAA=0.00173/1 (NorthernSweden)
HGVS:: NC_000012.12:g.31286670_31286680del, NC_000012.12:g.31286672_31286680del, NC_000012.12:g.31286673_31286680del, NC_000012.12:g.31286674_31286680del, NC_000012.12:g.31286675_31286680del, NC_000012.12:g.31286676_31286680del, NC_000012.12:g.31286677_31286680del, NC_000012.12:g.31286678_31286680del, NC_000012.12:g.31286679_31286680del, NC_000012.12:g.31286680del, NC_000012.12:g.31286680dup, NC_000012.12:g.31286679_31286680dup, NC_000012.12:g.31286678_31286680dup, NC_000012.12:g.31286677_31286680dup, NC_000012.12:g.31286675_31286680dup, NC_000012.12:g.31286670_31286680dup, NC_000012.12:g.31286680_31286681insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.31286680_31286681insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.31439604_31439614del, NC_000012.11:g.31439606_31439614del, NC_000012.11:g.31439607_31439614del, NC_000012.11:g.31439608_31439614del, NC_000012.11:g.31439609_31439614del, NC_000012.11:g.31439610_31439614del, NC_000012.11:g.31439611_31439614del, NC_000012.11:g.31439612_31439614del, NC_000012.11:g.31439613_31439614del, NC_000012.11:g.31439614del, NC_000012.11:g.31439614dup, NC_000012.11:g.31439613_31439614dup, NC_000012.11:g.31439612_31439614dup, NC_000012.11:g.31439611_31439614dup, NC_000012.11:g.31439609_31439614dup, NC_000012.11:g.31439604_31439614dup, NC_000012.11:g.31439614_31439615insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.31439614_31439615insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187587.1:g.177464_177474del, NT_187587.1:g.177466_177474del, NT_187587.1:g.177467_177474del, NT_187587.1:g.177468_177474del, NT_187587.1:g.177469_177474del, NT_187587.1:g.177470_177474del, NT_187587.1:g.177471_177474del, NT_187587.1:g.177472_177474del, NT_187587.1:g.177473_177474del, NT_187587.1:g.177474del, NT_187587.1:g.177474dup, NT_187587.1:g.177473_177474dup, NT_187587.1:g.177472_177474dup, NT_187587.1:g.177471_177474dup, NT_187587.1:g.177469_177474dup, NT_187587.1:g.177464_177474dup, NT_187587.1:g.177474_177475insAAAAAAAAAAAAAAAAAAAAAAA, NT_187587.1:g.177474_177475insAAAAAAAAAAAAAAAAAAAAAAAAAAA

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