SNP Links for Gene (Select 26112) - SNP

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Select item 14915875571.

rs1491587557 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:151216407 (GRCh38)
5:150595969 (GRCh37)
Canonical SPDI:: NC_000005.10:151216407::G
Gene:: CCDC69 (Varview), LOC105378230 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0011/13 (ALFA)
G=0.00304/263 (GnomAD)
HGVS:: NC_000005.10:g.151216407_151216408insG, NC_000005.9:g.150595968_150595969insG

Select item 14915696382.

rs1491569638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:151193341 (GRCh38)
5:150572903 (GRCh37)
Canonical SPDI:: NC_000005.10:151193341:C:CC
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.151193342dup, NC_000005.9:g.150572903dup

Select item 14915234983.

rs1491523498 has merged into rs35015191 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:151190674 (GRCh38)
5:150570235 (GRCh37)
Canonical SPDI:: NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151190665:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAA=0.2911/1458 (1000Genomes)
HGVS:: NC_000005.10:g.151190674_151190685del, NC_000005.10:g.151190676_151190685del, NC_000005.10:g.151190679_151190685del, NC_000005.10:g.151190680_151190685del, NC_000005.10:g.151190681_151190685del, NC_000005.10:g.151190682_151190685del, NC_000005.10:g.151190683_151190685del, NC_000005.10:g.151190684_151190685del, NC_000005.10:g.151190685del, NC_000005.10:g.151190685dup, NC_000005.10:g.151190684_151190685dup, NC_000005.10:g.151190683_151190685dup, NC_000005.10:g.151190666_151190685A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.150570235_150570246del, NC_000005.9:g.150570237_150570246del, NC_000005.9:g.150570240_150570246del, NC_000005.9:g.150570241_150570246del, NC_000005.9:g.150570242_150570246del, NC_000005.9:g.150570243_150570246del, NC_000005.9:g.150570244_150570246del, NC_000005.9:g.150570245_150570246del, NC_000005.9:g.150570246del, NC_000005.9:g.150570246dup, NC_000005.9:g.150570245_150570246dup, NC_000005.9:g.150570244_150570246dup, NC_000005.9:g.150570227_150570246A[25]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915135584.

rs1491513558 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:151190665 (GRCh38)
5:150570226 (GRCh37)
Canonical SPDI:: NC_000005.10:151190664:CA:
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03684/437 (ALFA)
-=0.00563/10 (Korea1K)
-=0.0058/97 (TOMMO)
HGVS:: NC_000005.10:g.151190665_151190666del, NC_000005.9:g.150570226_150570227del

Select item 14914095405.

rs1491409540 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:151202190 (GRCh38)
5:150581751 (GRCh37)
Canonical SPDI:: NC_000005.10:151202189:TA:
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.151202190_151202191del, NC_000005.9:g.150581751_150581752del

Select item 14913218546.

rs1491321854 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:151193342 (GRCh38)
5:150572903 (GRCh37)
Canonical SPDI:: NC_000005.10:151193340:ACA:A
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00101/12 (ALFA)
HGVS:: NC_000005.10:g.151193342_151193343del, NC_000005.9:g.150572903_150572904del

Select item 14912779527.

rs1491277952 has merged into rs1262419326 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:151216419 (GRCh38)
5:150595980 (GRCh37)
Canonical SPDI:: NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151216406:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCDC69 (Varview), LOC105378230 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.151216419_151216430del, NC_000005.10:g.151216420_151216430del, NC_000005.10:g.151216421_151216430del, NC_000005.10:g.151216422_151216430del, NC_000005.10:g.151216423_151216430del, NC_000005.10:g.151216424_151216430del, NC_000005.10:g.151216425_151216430del, NC_000005.10:g.151216426_151216430del, NC_000005.10:g.151216427_151216430del, NC_000005.10:g.151216428_151216430del, NC_000005.10:g.151216429_151216430del, NC_000005.10:g.151216430del, NC_000005.10:g.151216430dup, NC_000005.10:g.151216429_151216430dup, NC_000005.10:g.151216428_151216430dup, NC_000005.10:g.151216427_151216430dup, NC_000005.10:g.151216426_151216430dup, NC_000005.10:g.151216425_151216430dup, NC_000005.10:g.151216424_151216430dup, NC_000005.10:g.151216423_151216430dup, NC_000005.10:g.151216422_151216430dup, NC_000005.10:g.151216421_151216430dup, NC_000005.10:g.151216420_151216430dup, NC_000005.10:g.151216418_151216430dup, NC_000005.10:g.151216430_151216431insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151216430_151216431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151216430_151216431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151216430_151216431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151216430_151216431insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150595980_150595991del, NC_000005.9:g.150595981_150595991del, NC_000005.9:g.150595982_150595991del, NC_000005.9:g.150595983_150595991del, NC_000005.9:g.150595984_150595991del, NC_000005.9:g.150595985_150595991del, NC_000005.9:g.150595986_150595991del, NC_000005.9:g.150595987_150595991del, NC_000005.9:g.150595988_150595991del, NC_000005.9:g.150595989_150595991del, NC_000005.9:g.150595990_150595991del, NC_000005.9:g.150595991del, NC_000005.9:g.150595991dup, NC_000005.9:g.150595990_150595991dup, NC_000005.9:g.150595989_150595991dup, NC_000005.9:g.150595988_150595991dup, NC_000005.9:g.150595987_150595991dup, NC_000005.9:g.150595986_150595991dup, NC_000005.9:g.150595985_150595991dup, NC_000005.9:g.150595984_150595991dup, NC_000005.9:g.150595983_150595991dup, NC_000005.9:g.150595982_150595991dup, NC_000005.9:g.150595981_150595991dup, NC_000005.9:g.150595979_150595991dup, NC_000005.9:g.150595991_150595992insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150595991_150595992insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150595991_150595992insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150595991_150595992insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.150595991_150595992insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912389718.

rs1491238971 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:151211540 (GRCh38)
5:150591101 (GRCh37)
Canonical SPDI:: NC_000005.10:151211539:TG:
Gene:: CCDC69 (Varview), LOC105378230 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.151211540_151211541del, NC_000005.9:g.150591101_150591102del

Select item 14911246309.

rs1491124630 [Homo sapiens]

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

Select item 149111473510.

rs1491114735 has merged into rs5872193 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:151202201 (GRCh38)
5:150581762 (GRCh37)
Canonical SPDI:: NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.0011/4 (TWINSUK)
AA=0.0021/8 (ALSPAC)
AA=0.3/12 (GENOME_DK)
HGVS:: NC_000005.10:g.151202201_151202214del, NC_000005.10:g.151202205_151202214del, NC_000005.10:g.151202206_151202214del, NC_000005.10:g.151202209_151202214del, NC_000005.10:g.151202210_151202214del, NC_000005.10:g.151202211_151202214del, NC_000005.10:g.151202212_151202214del, NC_000005.10:g.151202213_151202214del, NC_000005.10:g.151202214del, NC_000005.10:g.151202214dup, NC_000005.10:g.151202213_151202214dup, NC_000005.10:g.151202212_151202214dup, NC_000005.10:g.151202211_151202214dup, NC_000005.9:g.150581762_150581775del, NC_000005.9:g.150581766_150581775del, NC_000005.9:g.150581767_150581775del, NC_000005.9:g.150581770_150581775del, NC_000005.9:g.150581771_150581775del, NC_000005.9:g.150581772_150581775del, NC_000005.9:g.150581773_150581775del, NC_000005.9:g.150581774_150581775del, NC_000005.9:g.150581775del, NC_000005.9:g.150581775dup, NC_000005.9:g.150581774_150581775dup, NC_000005.9:g.150581773_150581775dup, NC_000005.9:g.150581772_150581775dup

Select item 149105597511.

rs1491055975 has merged into rs36141328 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATAGTATATATAAAATATATATTGTATATATA,TATAGTATATATATAAAATATATATCATATATATA,TATAGTATATATATAAAATATATATCATATATATAGTATATATATAAAATATATATCGTATATATA,TATAGTATATATATAAAATATATATCGTATATATA [Show Flanks]
Chromosome:: 5:151203852 (GRCh38)
5:150583413 (GRCh37)
Canonical SPDI:: NC_000005.10:151203846:ATATATA:ATATA,NC_000005.10:151203846:ATATATA:ATATATATA,NC_000005.10:151203846:ATATATA:ATATATATAGTATATATAAAATATATATTGTATATATA,NC_000005.10:151203846:ATATATA:ATATATATAGTATATATATAAAATATATATCATATATATA,NC_000005.10:151203846:ATATATA:ATATATATAGTATATATATAAAATATATATCATATATATAGTATATATATAAAATATATATCGTATATATA,NC_000005.10:151203846:ATATATA:ATATATATAGTATATATATAAAATATATATCGTATATATA
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
AT=0.07517/132 (Korea1K)
AT=0.125/1 (GENOME_DK)
AT=0.12631/2098 (TOMMO)
AT=0.26078/1306 (1000Genomes)
HGVS:: NC_000005.10:g.151203848TA[2], NC_000005.10:g.151203848TA[4], NC_000005.10:g.151203847_151203853AT[4]AGTATATATAAAATATATATTGTATATATA[1], NC_000005.10:g.151203847_151203853AT[4]AGTATATATATAAAATATATATCATATATATA[1], NC_000005.10:g.151203847_151203853ATATATATAGTATATATATAAAATATATATC[2]GTATATATA[1], NC_000005.10:g.151203847_151203853AT[4]AGTATATATATAAAATATATATCGTATATATA[1], NC_000005.9:g.150583409TA[2], NC_000005.9:g.150583409TA[4], NC_000005.9:g.150583408_150583414AT[4]AGTATATATAAAATATATATTGTATATATA[1], NC_000005.9:g.150583408_150583414AT[4]AGTATATATATAAAATATATATCATATATATA[1], NC_000005.9:g.150583408_150583414ATATATATAGTATATATATAAAATATATATC[2]GTATATATA[1], NC_000005.9:g.150583408_150583414AT[4]AGTATATATATAAAATATATATCGTATATATA[1]

Select item 149100741612.

rs1491007416 has merged into rs34388055 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:151213424 (GRCh38)
5:150592985 (GRCh37)
Canonical SPDI:: NC_000005.10:151213412:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:151213412:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:151213412:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151213412:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151213412:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151213412:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:151213412:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: CCDC69 (Varview), LOC105378230 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4826/2417 (1000Genomes)
HGVS:: NC_000005.10:g.151213424_151213425del, NC_000005.10:g.151213425del, NC_000005.10:g.151213425dup, NC_000005.10:g.151213424_151213425dup, NC_000005.10:g.151213423_151213425dup, NC_000005.10:g.151213422_151213425dup, NC_000005.10:g.151213421_151213425dup, NC_000005.9:g.150592985_150592986del, NC_000005.9:g.150592986del, NC_000005.9:g.150592986dup, NC_000005.9:g.150592985_150592986dup, NC_000005.9:g.150592984_150592986dup, NC_000005.9:g.150592983_150592986dup, NC_000005.9:g.150592982_150592986dup

Select item 149099336413.

rs1490993364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:151207245 (GRCh38)
5:150586806 (GRCh37)
Canonical SPDI:: NC_000005.10:151207244:G:A
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151207245G>A, NC_000005.9:g.150586806G>A

Select item 149082347914.

rs1490823479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:151184547 (GRCh38)
5:150564108 (GRCh37)
Canonical SPDI:: NC_000005.10:151184546:G:T
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.151184547G>T, NC_000005.9:g.150564108G>T

Select item 149067581015.

rs1490675810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151202999 (GRCh38)
5:150582560 (GRCh37)
Canonical SPDI:: NC_000005.10:151202998:C:T
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000005.10:g.151202999C>T, NC_000005.9:g.150582560C>T

Select item 149064269016.

rs1490642690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151198731 (GRCh38)
5:150578292 (GRCh37)
Canonical SPDI:: NC_000005.10:151198730:A:G
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.151198731A>G, NC_000005.9:g.150578292A>G

Select item 149063740617.

rs1490637406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:151195480 (GRCh38)
5:150575041 (GRCh37)
Canonical SPDI:: NC_000005.10:151195479:G:A
Gene:: CCDC69 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151195480G>A, NC_000005.9:g.150575041G>A

Select item 149048807618.

rs1490488076 [Homo sapiens]

Variant type:: DEL
Alleles:: ATTTTTTTTTTTT>- [Show Flanks]
Chromosome:: 5:151216406 (GRCh38)
5:150595967 (GRCh37)
Canonical SPDI:: NC_000005.10:151216405:ATTTTTTTTTTTT:
Gene:: CCDC69 (Varview), LOC105378230 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151216406_151216418del, NC_000005.9:g.150595967_150595979del

Select item 149046139819.

rs1490461398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:151215160 (GRCh38)
5:150594721 (GRCh37)
Canonical SPDI:: NC_000005.10:151215159:C:G,NC_000005.10:151215159:C:T
Gene:: CCDC69 (Varview), LOC105378230 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.151215160C>G, NC_000005.10:g.151215160C>T, NC_000005.9:g.150594721C>G, NC_000005.9:g.150594721C>T

Select item 149041123620.

rs1490411236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151210769 (GRCh38)
5:150590330 (GRCh37)
Canonical SPDI:: NC_000005.10:151210768:A:G
Gene:: CCDC69 (Varview), LOC105378230 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.151210769A>G, NC_000005.9:g.150590330A>G

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