SNP Links for Gene (Select 2956) - SNP

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Select item 14915884231.

rs1491588423 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:47806770 (GRCh38)
2:48033909 (GRCh37)
Canonical SPDI:: NC_000002.12:47806769:AA:
Gene:: MSH6 (Varview), FBXO11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01791/453 (ALFA)
-=0.00009/9 (ExAC)
HGVS:: NC_000002.12:g.47806770_47806771del, NC_000002.11:g.48033909_48033910del, NG_008397.1:g.103905_103906del, NG_007111.1:g.28624_28625del, NM_018693.1:c.*1348_*1349del

Select item 14915780822.

rs1491578082 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:47804811 (GRCh38)
2:48031950 (GRCh37)
Canonical SPDI:: NC_000002.12:47804810:TA:
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.47804811_47804812del, NC_000002.11:g.48031950_48031951del, NG_007111.1:g.26665_26666del

Select item 14915697273.

rs1491569727 has merged into rs35781475 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:47805193 (GRCh38)
2:48032332 (GRCh37)
Canonical SPDI:: NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.003344/2 (NorthernSweden)
HGVS:: NC_000002.12:g.47805193_47805197del, NC_000002.12:g.47805194_47805197del, NC_000002.12:g.47805195_47805197del, NC_000002.12:g.47805196_47805197del, NC_000002.12:g.47805197del, NC_000002.12:g.47805197dup, NC_000002.12:g.47805196_47805197dup, NC_000002.12:g.47805195_47805197dup, NC_000002.12:g.47805194_47805197dup, NC_000002.12:g.47805193_47805197dup, NC_000002.12:g.47805192_47805197dup, NC_000002.12:g.47805190_47805197dup, NC_000002.12:g.47805185_47805197dup, NC_000002.11:g.48032332_48032336del, NC_000002.11:g.48032333_48032336del, NC_000002.11:g.48032334_48032336del, NC_000002.11:g.48032335_48032336del, NC_000002.11:g.48032336del, NC_000002.11:g.48032336dup, NC_000002.11:g.48032335_48032336dup, NC_000002.11:g.48032334_48032336dup, NC_000002.11:g.48032333_48032336dup, NC_000002.11:g.48032332_48032336dup, NC_000002.11:g.48032331_48032336dup, NC_000002.11:g.48032329_48032336dup, NC_000002.11:g.48032324_48032336dup, NG_008397.1:g.105488_105492del, NG_008397.1:g.105489_105492del, NG_008397.1:g.105490_105492del, NG_008397.1:g.105491_105492del, NG_008397.1:g.105492del, NG_008397.1:g.105492dup, NG_008397.1:g.105491_105492dup, NG_008397.1:g.105490_105492dup, NG_008397.1:g.105489_105492dup, NG_008397.1:g.105488_105492dup, NG_008397.1:g.105487_105492dup, NG_008397.1:g.105485_105492dup, NG_008397.1:g.105480_105492dup, NG_007111.1:g.27047_27051del, NG_007111.1:g.27048_27051del, NG_007111.1:g.27049_27051del, NG_007111.1:g.27050_27051del, NG_007111.1:g.27051del, NG_007111.1:g.27051dup, NG_007111.1:g.27050_27051dup, NG_007111.1:g.27049_27051dup, NG_007111.1:g.27048_27051dup, NG_007111.1:g.27047_27051dup, NG_007111.1:g.27046_27051dup, NG_007111.1:g.27044_27051dup, NG_007111.1:g.27039_27051dup

Select item 14915625304.

rs1491562530 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:47805173 (GRCh38)
2:48032312 (GRCh37)
Canonical SPDI:: NC_000002.12:47805172:GT:
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000337/4 (ALFA)
-=0.000302/42 (GnomAD)
-=0.000779/13 (TOMMO)
HGVS:: NC_000002.12:g.47805173_47805174del, NC_000002.11:g.48032312_48032313del, NG_008397.1:g.105502_105503del, NG_007111.1:g.27027_27028del

Select item 14915540845.

rs1491554084 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:47802633 (GRCh38)
2:48029772 (GRCh37)
Canonical SPDI:: NC_000002.12:47802632:CT:
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.47802633_47802634del, NC_000002.11:g.48029772_48029773del, NG_007111.1:g.24487_24488del, NM_001406832.1:c.-620_-619del

Select item 14915449516.

rs1491544951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAGGAATTATAGACTG [Show Flanks]
Chromosome:: 2:47806847 (GRCh38)
2:48033987 (GRCh37)
Canonical SPDI:: NC_000002.12:47806847:TAAGGAATTATAGACTG:TAAGGAATTATAGACTGTAAGGAATTATAGACTG
Gene:: MSH6 (Varview), FBXO11 (Varview)
Functional Consequence:: terminator_codon_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance,likely-benign
HGVS:: NC_000002.12:g.47806848_47806864dup, NC_000002.11:g.48033987_48034003dup, NG_008397.1:g.103812_103828dup, NG_007111.1:g.28702_28718dup, NM_000179.3:c.4071_*4dup, NM_000179.2:c.4071_*4dup, NM_001281493.2:c.3165_*4dup, NM_001281493.1:c.3165_*4dup, NM_001281494.2:c.3165_*4dup, NM_001281494.1:c.3165_*4dup, NM_001281492.2:c.3681_*4dup, NM_001281492.1:c.3681_*4dup, NM_001406830.1:c.3774_*4dup, NM_001406807.1:c.3546_*4dup, NR_176257.1:n.4332_4348dup, NM_001406826.1:c.3903_*4dup, NR_176258.1:n.4261_4277dup, NM_001406795.1:c.4167_*4dup, NM_001406814.1:c.3165_*4dup, NR_176259.1:n.4160_4176dup, NM_001406813.1:c.4077_*4dup, NM_001406808.1:c.*52_*68dup, NM_001406800.1:c.*92_*108dup, NM_001406804.1:c.3993_*4dup, NM_001406796.1:c.4071_*4dup, NM_001406809.1:c.4071_*4dup, NM_001406825.1:c.3774_*4dup, NM_001406802.1:c.*52_*68dup, NR_176261.1:n.4042_4058dup, NM_001406818.1:c.3774_*4dup, NM_001406798.1:c.3897_*4dup, NM_001406819.1:c.3774_*4dup, NM_001406799.1:c.3546_*4dup, NM_001406824.1:c.3774_*4dup, NM_001406822.1:c.*52_*68dup, NM_001406811.1:c.3165_*4dup, NM_001406821.1:c.3774_*4dup, NM_001406797.1:c.3774_*4dup, NM_001406827.1:c.3774_*4dup, NM_001406801.1:c.*52_*68dup, NM_001406820.1:c.3774_*4dup, NM_001406805.1:c.3774_*4dup, NM_001406812.1:c.3165_*4dup, NM_001406828.1:c.3774_*4dup, NM_001406829.1:c.3165_*4dup, NM_001406816.1:c.3165_*4dup, NM_001406806.1:c.3546_*4dup, NM_001406823.1:c.3165_*4dup, NM_001406815.1:c.3165_*4dup, NM_001406803.1:c.3207_*4dup, NR_176256.1:n.3001_3017dup, NM_001406832.1:c.918_*4dup, NM_001406817.1:c.2505_*4dup, NM_001407362.1:c.2016_*4dup, NM_001406831.1:c.852_*4dup, NM_018693.1:c.*1255_*1271dup, NR_176260.1:n.2105_2121dup

Select item 14915351877.

rs1491535187 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:47791154 (GRCh38)
2:48018293 (GRCh37)
Canonical SPDI:: NC_000002.12:47791152:TTT:T
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.00005/6 (ExAC)
HGVS:: NC_000002.12:g.47791154_47791155del, NC_000002.11:g.48018293_48018294del, NG_007111.1:g.13008_13009del

Select item 14914960768.

rs1491496076 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:47804535 (GRCh38)
2:48031674 (GRCh37)
Canonical SPDI:: NC_000002.12:47804534:TA:
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.47804535_47804536del, NC_000002.11:g.48031674_48031675del, NG_007111.1:g.26389_26390del

Select item 14914660879.

rs1491466087 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:47807293 (GRCh38)
2:48034432 (GRCh37)
Canonical SPDI:: NC_000002.12:47807291:ATA:A
Gene:: MSH6 (Varview), FBXO11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000086/12 (GnomAD)
-=0.000185/49 (TOPMED)
HGVS:: NC_000002.12:g.47807293_47807294del, NC_000002.11:g.48034432_48034433del, NG_008397.1:g.103383_103384del, NM_025133.4:c.*825_*826del, NM_001190274.2:c.*825_*826del, NM_001190274.1:c.*825_*826del, NM_001374325.1:c.*825_*826del, NG_007111.1:g.29147_29148del, XM_005264572.6:c.*825_*826del, XM_005264572.5:c.*825_*826del, XM_005264572.4:c.*825_*826del, XM_005264572.3:c.*825_*826del, XM_005264572.2:c.*825_*826del, XM_005264572.1:c.*825_*826del, XM_005264573.6:c.*825_*826del, XM_005264573.5:c.*825_*826del, XM_005264573.4:c.*825_*826del, XM_005264573.3:c.*825_*826del, XM_005264573.2:c.*825_*826del, XM_005264573.1:c.*825_*826del, XM_017005016.3:c.*825_*826del, XM_017005016.2:c.*825_*826del, XM_017005016.1:c.*825_*826del, XM_017005015.2:c.*825_*826del, XM_017005015.1:c.*825_*826del, XM_047445922.1:c.*825_*826del, XM_047445919.1:c.*825_*826del, XM_047445920.1:c.*825_*826del, XM_047445921.1:c.*825_*826del, NM_018693.1:c.*826_*827del

Select item 149145392510.

rs1491453925 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:47802633 (GRCh38)
2:48029773 (GRCh37)
Canonical SPDI:: NC_000002.12:47802633:T:TT
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000023/3 (GnomAD)
HGVS:: NC_000002.12:g.47802634dup, NC_000002.11:g.48029773dup, NG_007111.1:g.24488dup, NM_001406832.1:c.-619dup

Select item 149144028111.

rs1491440281 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:47805184 (GRCh38)
2:48032324 (GRCh37)
Canonical SPDI:: NC_000002.12:47805184::C
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000422/5 (ALFA)
C=0.000193/24 (GnomAD)
C=0.000354/6 (TOMMO)
HGVS:: NC_000002.12:g.47805184_47805185insC, NC_000002.11:g.48032323_48032324insC, NG_008397.1:g.105491_105492insG, NG_007111.1:g.27038_27039insC

Select item 149143948512.

rs1491439485 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:47806847 (GRCh38)
2:48033986 (GRCh37)
Canonical SPDI:: NC_000002.12:47806846:TT:
Gene:: MSH6 (Varview), FBXO11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.47806847_47806848del, NC_000002.11:g.48033986_48033987del, NG_008397.1:g.103828_103829del, NG_007111.1:g.28701_28702del, NM_000179.3:c.4070_4071del, NM_000179.2:c.4070_4071del, NM_001281493.2:c.3164_3165del, NM_001281493.1:c.3164_3165del, NM_001281494.2:c.3164_3165del, NM_001281494.1:c.3164_3165del, NM_001281492.2:c.3680_3681del, NM_001281492.1:c.3680_3681del, NM_001406830.1:c.3773_3774del, NM_001406807.1:c.3545_3546del, NR_176257.1:n.4331_4332del, NM_001406826.1:c.3902_3903del, NR_176258.1:n.4260_4261del, NM_001406795.1:c.4166_4167del, NM_001406814.1:c.3164_3165del, NR_176259.1:n.4159_4160del, NM_001406813.1:c.4076_4077del, NM_001406808.1:c.*51_*52del, NM_001406800.1:c.*91_*92del, NM_001406804.1:c.3992_3993del, NM_001406796.1:c.4070_4071del, NM_001406809.1:c.4070_4071del, NM_001406825.1:c.3773_3774del, NM_001406802.1:c.*51_*52del, NR_176261.1:n.4041_4042del, NM_001406818.1:c.3773_3774del, NM_001406798.1:c.3896_3897del, NM_001406819.1:c.3773_3774del, NM_001406799.1:c.3545_3546del, NM_001406824.1:c.3773_3774del, NM_001406822.1:c.*51_*52del, NM_001406811.1:c.3164_3165del, NM_001406821.1:c.3773_3774del, NM_001406797.1:c.3773_3774del, NM_001406827.1:c.3773_3774del, NM_001406801.1:c.*51_*52del, NM_001406820.1:c.3773_3774del, NM_001406805.1:c.3773_3774del, NM_001406812.1:c.3164_3165del, NM_001406828.1:c.3773_3774del, NM_001406829.1:c.3164_3165del, NM_001406816.1:c.3164_3165del, NM_001406806.1:c.3545_3546del, NM_001406823.1:c.3164_3165del, NM_001406815.1:c.3164_3165del, NM_001406803.1:c.3206_3207del, NR_176256.1:n.3000_3001del, NM_001406832.1:c.917_918del, NM_001406817.1:c.2504_2505del, NM_001407362.1:c.2015_2016del, NM_001406831.1:c.851_852del, NM_018693.1:c.*1271_*1272del, NR_176260.1:n.2104_2105del, NP_000170.1:p.Ile1357fs, NP_001268422.1:p.Ile1055fs, NP_001268423.1:p.Ile1055fs, NP_001268421.1:p.Ile1227fs

Select item 149143312013.

rs1491433120 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:47804811 (GRCh38)
2:48031951 (GRCh37)
Canonical SPDI:: NC_000002.12:47804811:A:AA
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.47804812dup, NC_000002.11:g.48031951dup, NG_007111.1:g.26666dup

Select item 149141922614.

rs1491419226 has merged into rs746167671 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 2:47804548 (GRCh38)
2:48031687 (GRCh37)
Canonical SPDI:: NC_000002.12:47804535:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:47804535:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:47804535:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:47804535:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.07071/42 (NorthernSweden)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000002.12:g.47804548_47804550del, NC_000002.12:g.47804549_47804550del, NC_000002.12:g.47804550del, NC_000002.12:g.47804550dup, NC_000002.11:g.48031687_48031689del, NC_000002.11:g.48031688_48031689del, NC_000002.11:g.48031689del, NC_000002.11:g.48031689dup, NG_007111.1:g.26402_26404del, NG_007111.1:g.26403_26404del, NG_007111.1:g.26404del, NG_007111.1:g.26404dup

Select item 149141110015.

rs1491411100 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:47806751 (GRCh38)
2:48033890 (GRCh37)
Canonical SPDI:: NC_000002.12:47806750:CT:
Gene:: MSH6 (Varview), FBXO11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00002/2 (ExAC)
HGVS:: NC_000002.12:g.47806751_47806752del, NC_000002.11:g.48033890_48033891del, NG_008397.1:g.103924_103925del, NG_007111.1:g.28605_28606del

Select item 149126097216.

rs1491260972 has merged into rs10666222 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:47801373 (GRCh38)
2:48028512 (GRCh37)
Canonical SPDI:: NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47801361:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0.05/2 (GENOME_DK)
HGVS:: NC_000002.12:g.47801373_47801386del, NC_000002.12:g.47801375_47801386del, NC_000002.12:g.47801376_47801386del, NC_000002.12:g.47801377_47801386del, NC_000002.12:g.47801378_47801386del, NC_000002.12:g.47801379_47801386del, NC_000002.12:g.47801380_47801386del, NC_000002.12:g.47801381_47801386del, NC_000002.12:g.47801382_47801386del, NC_000002.12:g.47801383_47801386del, NC_000002.12:g.47801384_47801386del, NC_000002.12:g.47801385_47801386del, NC_000002.12:g.47801386del, NC_000002.12:g.47801386dup, NC_000002.12:g.47801385_47801386dup, NC_000002.12:g.47801384_47801386dup, NC_000002.12:g.47801383_47801386dup, NC_000002.12:g.47801382_47801386dup, NC_000002.12:g.47801381_47801386dup, NC_000002.12:g.47801380_47801386dup, NC_000002.12:g.47801362_47801386T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.47801379_47801386dup, NC_000002.12:g.47801362_47801386T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.47801378_47801386dup, NC_000002.12:g.47801377_47801386dup, NC_000002.12:g.47801376_47801386dup, NC_000002.12:g.47801375_47801386dup, NC_000002.12:g.47801374_47801386dup, NC_000002.12:g.47801373_47801386dup, NC_000002.12:g.47801372_47801386dup, NC_000002.12:g.47801370_47801386dup, NC_000002.12:g.47801369_47801386dup, NC_000002.12:g.47801368_47801386dup, NC_000002.12:g.47801366_47801386dup, NC_000002.12:g.47801364_47801386dup, NC_000002.12:g.47801363_47801386dup, NC_000002.12:g.47801362_47801386dup, NC_000002.12:g.47801386_47801387insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47801386_47801387insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47801386_47801387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47801386_47801387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47801362_47801386T[59]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.47801386_47801387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47801386_47801387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47801386_47801387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48028512_48028525del, NC_000002.11:g.48028514_48028525del, NC_000002.11:g.48028515_48028525del, NC_000002.11:g.48028516_48028525del, NC_000002.11:g.48028517_48028525del, NC_000002.11:g.48028518_48028525del, NC_000002.11:g.48028519_48028525del, NC_000002.11:g.48028520_48028525del, NC_000002.11:g.48028521_48028525del, NC_000002.11:g.48028522_48028525del, NC_000002.11:g.48028523_48028525del, NC_000002.11:g.48028524_48028525del, NC_000002.11:g.48028525del, NC_000002.11:g.48028525dup, NC_000002.11:g.48028524_48028525dup, NC_000002.11:g.48028523_48028525dup, NC_000002.11:g.48028522_48028525dup, NC_000002.11:g.48028521_48028525dup, NC_000002.11:g.48028520_48028525dup, NC_000002.11:g.48028519_48028525dup, NC_000002.11:g.48028501_48028525T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.48028518_48028525dup, NC_000002.11:g.48028501_48028525T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.48028517_48028525dup, NC_000002.11:g.48028516_48028525dup, NC_000002.11:g.48028515_48028525dup, NC_000002.11:g.48028514_48028525dup, NC_000002.11:g.48028513_48028525dup, NC_000002.11:g.48028512_48028525dup, NC_000002.11:g.48028511_48028525dup, NC_000002.11:g.48028509_48028525dup, NC_000002.11:g.48028508_48028525dup, NC_000002.11:g.48028507_48028525dup, NC_000002.11:g.48028505_48028525dup, NC_000002.11:g.48028503_48028525dup, NC_000002.11:g.48028502_48028525dup, NC_000002.11:g.48028501_48028525dup, NC_000002.11:g.48028525_48028526insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48028525_48028526insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48028525_48028526insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48028525_48028526insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48028501_48028525T[59]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.48028525_48028526insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48028525_48028526insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48028525_48028526insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.23227_23240del, NG_007111.1:g.23229_23240del, NG_007111.1:g.23230_23240del, NG_007111.1:g.23231_23240del, NG_007111.1:g.23232_23240del, NG_007111.1:g.23233_23240del, NG_007111.1:g.23234_23240del, NG_007111.1:g.23235_23240del, NG_007111.1:g.23236_23240del, NG_007111.1:g.23237_23240del, NG_007111.1:g.23238_23240del, NG_007111.1:g.23239_23240del, NG_007111.1:g.23240del, NG_007111.1:g.23240dup, NG_007111.1:g.23239_23240dup, NG_007111.1:g.23238_23240dup, NG_007111.1:g.23237_23240dup, NG_007111.1:g.23236_23240dup, NG_007111.1:g.23235_23240dup, NG_007111.1:g.23234_23240dup, NG_007111.1:g.23216_23240T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007111.1:g.23233_23240dup, NG_007111.1:g.23216_23240T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007111.1:g.23232_23240dup, NG_007111.1:g.23231_23240dup, NG_007111.1:g.23230_23240dup, NG_007111.1:g.23229_23240dup, NG_007111.1:g.23228_23240dup, NG_007111.1:g.23227_23240dup, NG_007111.1:g.23226_23240dup, NG_007111.1:g.23224_23240dup, NG_007111.1:g.23223_23240dup, NG_007111.1:g.23222_23240dup, NG_007111.1:g.23220_23240dup, NG_007111.1:g.23218_23240dup, NG_007111.1:g.23217_23240dup, NG_007111.1:g.23216_23240dup, NG_007111.1:g.23240_23241insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.23240_23241insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.23240_23241insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.23240_23241insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.23216_23240T[59]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007111.1:g.23240_23241insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.23240_23241insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.23240_23241insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149121564717.

rs1491215647 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:47791142 (GRCh38)
2:48018281 (GRCh37)
Canonical SPDI:: NC_000002.12:47791141:AT:
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000016/4 (GnomAD_exomes)
-=0.000017/2 (ExAC)
-=0.000071/1 (TOMMO)
-=0.000079/11 (GnomAD)
-=0.00008/1 (GoESP)
HGVS:: NC_000002.12:g.47791142_47791143del, NC_000002.11:g.48018281_48018282del, NG_007111.1:g.12996_12997del

Select item 149119905718.

rs1491199057 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 2:47788247 (GRCh38)
2:48015387 (GRCh37)
Canonical SPDI:: NC_000002.12:47788247:TT:TTCTT
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.47788249_47788250insCTT, NC_000002.11:g.48015388_48015389insCTT, NG_007111.1:g.10103_10104insCTT

Select item 149119309719.

rs1491193097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:47807292 (GRCh38)
2:48034432 (GRCh37)
Canonical SPDI:: NC_000002.12:47807292:T:TT
Gene:: MSH6 (Varview), FBXO11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47807293dup, NC_000002.11:g.48034432dup, NG_008397.1:g.103383dup, NM_025133.4:c.*825dup, NM_001190274.2:c.*825dup, NM_001190274.1:c.*825dup, NM_001374325.1:c.*825dup, NG_007111.1:g.29147dup, XM_005264572.6:c.*825dup, XM_005264572.5:c.*825dup, XM_005264572.4:c.*825dup, XM_005264572.3:c.*825dup, XM_005264572.2:c.*825dup, XM_005264572.1:c.*825dup, XM_005264573.6:c.*825dup, XM_005264573.5:c.*825dup, XM_005264573.4:c.*825dup, XM_005264573.3:c.*825dup, XM_005264573.2:c.*825dup, XM_005264573.1:c.*825dup, XM_017005016.3:c.*825dup, XM_017005016.2:c.*825dup, XM_017005016.1:c.*825dup, XM_017005015.2:c.*825dup, XM_017005015.1:c.*825dup, XM_047445922.1:c.*825dup, XM_047445919.1:c.*825dup, XM_047445920.1:c.*825dup, XM_047445921.1:c.*825dup, NM_018693.1:c.*826dup

Select item 149118065920.

rs1491180659 has merged into rs560110301 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:47788255 (GRCh38)
2:48015394 (GRCh37)
Canonical SPDI:: NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47788246:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MSH6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.398/1993 (1000Genomes)
HGVS:: NC_000002.12:g.47788255_47788272del, NC_000002.12:g.47788257_47788272del, NC_000002.12:g.47788259_47788272del, NC_000002.12:g.47788260_47788272del, NC_000002.12:g.47788261_47788272del, NC_000002.12:g.47788262_47788272del, NC_000002.12:g.47788263_47788272del, NC_000002.12:g.47788264_47788272del, NC_000002.12:g.47788265_47788272del, NC_000002.12:g.47788266_47788272del, NC_000002.12:g.47788267_47788272del, NC_000002.12:g.47788268_47788272del, NC_000002.12:g.47788269_47788272del, NC_000002.12:g.47788270_47788272del, NC_000002.12:g.47788271_47788272del, NC_000002.12:g.47788272del, NC_000002.12:g.47788272dup, NC_000002.12:g.47788271_47788272dup, NC_000002.12:g.47788270_47788272dup, NC_000002.12:g.47788269_47788272dup, NC_000002.12:g.47788268_47788272dup, NC_000002.12:g.47788267_47788272dup, NC_000002.12:g.47788266_47788272dup, NC_000002.12:g.47788265_47788272dup, NC_000002.12:g.47788264_47788272dup, NC_000002.12:g.47788263_47788272dup, NC_000002.12:g.47788262_47788272dup, NC_000002.12:g.47788261_47788272dup, NC_000002.12:g.47788260_47788272dup, NC_000002.12:g.47788259_47788272dup, NC_000002.12:g.47788258_47788272dup, NC_000002.12:g.47788257_47788272dup, NC_000002.12:g.47788256_47788272dup, NC_000002.12:g.47788255_47788272dup, NC_000002.12:g.47788254_47788272dup, NC_000002.12:g.47788253_47788272dup, NC_000002.12:g.47788252_47788272dup, NC_000002.12:g.47788251_47788272dup, NC_000002.12:g.47788250_47788272dup, NC_000002.12:g.47788248_47788272dup, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47788272_47788273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015394_48015411del, NC_000002.11:g.48015396_48015411del, NC_000002.11:g.48015398_48015411del, NC_000002.11:g.48015399_48015411del, NC_000002.11:g.48015400_48015411del, NC_000002.11:g.48015401_48015411del, NC_000002.11:g.48015402_48015411del, NC_000002.11:g.48015403_48015411del, NC_000002.11:g.48015404_48015411del, NC_000002.11:g.48015405_48015411del, NC_000002.11:g.48015406_48015411del, NC_000002.11:g.48015407_48015411del, NC_000002.11:g.48015408_48015411del, NC_000002.11:g.48015409_48015411del, NC_000002.11:g.48015410_48015411del, NC_000002.11:g.48015411del, NC_000002.11:g.48015411dup, NC_000002.11:g.48015410_48015411dup, NC_000002.11:g.48015409_48015411dup, NC_000002.11:g.48015408_48015411dup, NC_000002.11:g.48015407_48015411dup, NC_000002.11:g.48015406_48015411dup, NC_000002.11:g.48015405_48015411dup, NC_000002.11:g.48015404_48015411dup, NC_000002.11:g.48015403_48015411dup, NC_000002.11:g.48015402_48015411dup, NC_000002.11:g.48015401_48015411dup, NC_000002.11:g.48015400_48015411dup, NC_000002.11:g.48015399_48015411dup, NC_000002.11:g.48015398_48015411dup, NC_000002.11:g.48015397_48015411dup, NC_000002.11:g.48015396_48015411dup, NC_000002.11:g.48015395_48015411dup, NC_000002.11:g.48015394_48015411dup, NC_000002.11:g.48015393_48015411dup, NC_000002.11:g.48015392_48015411dup, NC_000002.11:g.48015391_48015411dup, NC_000002.11:g.48015390_48015411dup, NC_000002.11:g.48015389_48015411dup, NC_000002.11:g.48015387_48015411dup, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48015411_48015412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10109_10126del, NG_007111.1:g.10111_10126del, NG_007111.1:g.10113_10126del, NG_007111.1:g.10114_10126del, NG_007111.1:g.10115_10126del, NG_007111.1:g.10116_10126del, NG_007111.1:g.10117_10126del, NG_007111.1:g.10118_10126del, NG_007111.1:g.10119_10126del, NG_007111.1:g.10120_10126del, NG_007111.1:g.10121_10126del, NG_007111.1:g.10122_10126del, NG_007111.1:g.10123_10126del, NG_007111.1:g.10124_10126del, NG_007111.1:g.10125_10126del, NG_007111.1:g.10126del, NG_007111.1:g.10126dup, NG_007111.1:g.10125_10126dup, NG_007111.1:g.10124_10126dup, NG_007111.1:g.10123_10126dup, NG_007111.1:g.10122_10126dup, NG_007111.1:g.10121_10126dup, NG_007111.1:g.10120_10126dup, NG_007111.1:g.10119_10126dup, NG_007111.1:g.10118_10126dup, NG_007111.1:g.10117_10126dup, NG_007111.1:g.10116_10126dup, NG_007111.1:g.10115_10126dup, NG_007111.1:g.10114_10126dup, NG_007111.1:g.10113_10126dup, NG_007111.1:g.10112_10126dup, NG_007111.1:g.10111_10126dup, NG_007111.1:g.10110_10126dup, NG_007111.1:g.10109_10126dup, NG_007111.1:g.10108_10126dup, NG_007111.1:g.10107_10126dup, NG_007111.1:g.10106_10126dup, NG_007111.1:g.10105_10126dup, NG_007111.1:g.10104_10126dup, NG_007111.1:g.10102_10126dup, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007111.1:g.10126_10127insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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