SNP Links for Gene (Select 3098) - SNP

Links from Gene

Items: 1 to 20 of 30608

<< First< Prev

Page of 1531

Next >Last >>

Select item 14915800631.

rs1491580063 has merged into rs34564828 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 10:69268983 (GRCh38)
10:71028739 (GRCh37)
Canonical SPDI:: NC_000010.11:69268973:AAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:69268973:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:69268973:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:69268973:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:69268973:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:69268973:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: HK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.69268983_69268986del, NC_000010.11:g.69268984_69268986del, NC_000010.11:g.69268985_69268986del, NC_000010.11:g.69268986del, NC_000010.11:g.69268986dup, NC_000010.11:g.69268985_69268986dup, NC_000010.10:g.71028739_71028742del, NC_000010.10:g.71028740_71028742del, NC_000010.10:g.71028741_71028742del, NC_000010.10:g.71028742del, NC_000010.10:g.71028742dup, NC_000010.10:g.71028741_71028742dup, NG_012077.1:g.3984_3987del, NG_012077.1:g.3985_3987del, NG_012077.1:g.3986_3987del, NG_012077.1:g.3987del, NG_012077.1:g.3987dup, NG_012077.1:g.3986_3987dup, NG_051555.1:g.53681_53684del, NG_051555.1:g.53682_53684del, NG_051555.1:g.53683_53684del, NG_051555.1:g.53684del, NG_051555.1:g.53684dup, NG_051555.1:g.53683_53684dup

Select item 14915684992.

rs1491568499 [Homo sapiens]

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

Select item 14915501703.

rs1491550170 has merged into rs111682217 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 10:69295702 (GRCh38)
10:71055458 (GRCh37)
Canonical SPDI:: NC_000010.11:69295692:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:69295692:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:69295692:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:69295692:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: HK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00208/57 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00422/21 (1000Genomes)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000010.11:g.69295702_69295703del, NC_000010.11:g.69295703del, NC_000010.11:g.69295703dup, NC_000010.11:g.69295702_69295703dup, NC_000010.10:g.71055458_71055459del, NC_000010.10:g.71055459del, NC_000010.10:g.71055459dup, NC_000010.10:g.71055458_71055459dup, NG_012077.1:g.30703_30704del, NG_012077.1:g.30704del, NG_012077.1:g.30704dup, NG_012077.1:g.30703_30704dup

Select item 14915325054.

rs1491532505 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:69283798 (GRCh38)
10:71043554 (GRCh37)
Canonical SPDI:: NC_000010.11:69283797:CA:
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.69283798_69283799del, NC_000010.10:g.71043554_71043555del, NG_012077.1:g.18799_18800del

Select item 14915315325.

rs1491531532 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTG [Show Flanks]
Chromosome:: 10:69283106 (GRCh38)
10:71042863 (GRCh37)
Canonical SPDI:: NC_000010.11:69283106::GTG
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000010.11:g.69283106_69283107insGTG, NC_000010.10:g.71042862_71042863insGTG, NG_012077.1:g.18107_18108insGTG

Select item 14915210936.

rs1491521093 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:69302755 (GRCh38)
10:71062511 (GRCh37)
Canonical SPDI:: NC_000010.11:69302754:CA:
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00295/35 (ALFA)
HGVS:: NC_000010.11:g.69302755_69302756del, NC_000010.10:g.71062511_71062512del, NG_012077.1:g.37756_37757del

Select item 14915135937.

rs1491513593 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:69355068 (GRCh38)
10:71114824 (GRCh37)
Canonical SPDI:: NC_000010.11:69355067:CA:
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.69355068_69355069del, NC_000010.10:g.71114824_71114825del, NG_012077.1:g.90069_90070del

Select item 14915101508.

rs1491510150 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:69353618 (GRCh38)
10:71113374 (GRCh37)
Canonical SPDI:: NC_000010.11:69353617:CA:
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000010.11:g.69353618_69353619del, NC_000010.10:g.71113374_71113375del, NG_012077.1:g.88619_88620del

Select item 14915013609.

rs1491501360 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:69301244 (GRCh38)
10:71061000 (GRCh37)
Canonical SPDI:: NC_000010.11:69301243:CA:
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.69301244_69301245del, NC_000010.10:g.71061000_71061001del, NG_012077.1:g.36245_36246del

Select item 149149662910.

rs1491496629 has merged into rs1491489087 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 10:69276136 (GRCh38)
10:71035892 (GRCh37)
Canonical SPDI:: NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATATATATA
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
-=0.13773/974 (TOMMO)
-=0.17347/153 (Korea1K)
HGVS:: NC_000010.11:g.69276124TA[6], NC_000010.11:g.69276124TA[7], NC_000010.11:g.69276124TA[9], NC_000010.11:g.69276124TA[10], NC_000010.11:g.69276124TA[11], NC_000010.11:g.69276124TA[12], NC_000010.11:g.69276124TA[13], NC_000010.10:g.71035880TA[6], NC_000010.10:g.71035880TA[7], NC_000010.10:g.71035880TA[9], NC_000010.10:g.71035880TA[10], NC_000010.10:g.71035880TA[11], NC_000010.10:g.71035880TA[12], NC_000010.10:g.71035880TA[13], NG_012077.1:g.11125TA[6], NG_012077.1:g.11125TA[7], NG_012077.1:g.11125TA[9], NG_012077.1:g.11125TA[10], NG_012077.1:g.11125TA[11], NG_012077.1:g.11125TA[12], NG_012077.1:g.11125TA[13]

Select item 149149359911.

rs1491493599 has merged into rs60324656 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:69276102 (GRCh38)
10:71035858 (GRCh37)
Canonical SPDI:: NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69276090:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.69276102_69276119del, NC_000010.11:g.69276103_69276119del, NC_000010.11:g.69276104_69276119del, NC_000010.11:g.69276105_69276119del, NC_000010.11:g.69276106_69276119del, NC_000010.11:g.69276107_69276119del, NC_000010.11:g.69276108_69276119del, NC_000010.11:g.69276109_69276119del, NC_000010.11:g.69276110_69276119del, NC_000010.11:g.69276111_69276119del, NC_000010.11:g.69276112_69276119del, NC_000010.11:g.69276113_69276119del, NC_000010.11:g.69276114_69276119del, NC_000010.11:g.69276115_69276119del, NC_000010.11:g.69276116_69276119del, NC_000010.11:g.69276117_69276119del, NC_000010.11:g.69276118_69276119del, NC_000010.11:g.69276119del, NC_000010.11:g.69276119dup, NC_000010.11:g.69276118_69276119dup, NC_000010.11:g.69276117_69276119dup, NC_000010.11:g.69276116_69276119dup, NC_000010.11:g.69276115_69276119dup, NC_000010.11:g.69276114_69276119dup, NC_000010.11:g.69276113_69276119dup, NC_000010.11:g.69276112_69276119dup, NC_000010.11:g.69276111_69276119dup, NC_000010.11:g.69276110_69276119dup, NC_000010.11:g.69276109_69276119dup, NC_000010.11:g.69276108_69276119dup, NC_000010.11:g.69276106_69276119dup, NC_000010.11:g.69276101_69276119dup, NC_000010.11:g.69276096_69276119dup, NC_000010.11:g.69276095_69276119dup, NC_000010.10:g.71035858_71035875del, NC_000010.10:g.71035859_71035875del, NC_000010.10:g.71035860_71035875del, NC_000010.10:g.71035861_71035875del, NC_000010.10:g.71035862_71035875del, NC_000010.10:g.71035863_71035875del, NC_000010.10:g.71035864_71035875del, NC_000010.10:g.71035865_71035875del, NC_000010.10:g.71035866_71035875del, NC_000010.10:g.71035867_71035875del, NC_000010.10:g.71035868_71035875del, NC_000010.10:g.71035869_71035875del, NC_000010.10:g.71035870_71035875del, NC_000010.10:g.71035871_71035875del, NC_000010.10:g.71035872_71035875del, NC_000010.10:g.71035873_71035875del, NC_000010.10:g.71035874_71035875del, NC_000010.10:g.71035875del, NC_000010.10:g.71035875dup, NC_000010.10:g.71035874_71035875dup, NC_000010.10:g.71035873_71035875dup, NC_000010.10:g.71035872_71035875dup, NC_000010.10:g.71035871_71035875dup, NC_000010.10:g.71035870_71035875dup, NC_000010.10:g.71035869_71035875dup, NC_000010.10:g.71035868_71035875dup, NC_000010.10:g.71035867_71035875dup, NC_000010.10:g.71035866_71035875dup, NC_000010.10:g.71035865_71035875dup, NC_000010.10:g.71035864_71035875dup, NC_000010.10:g.71035862_71035875dup, NC_000010.10:g.71035857_71035875dup, NC_000010.10:g.71035852_71035875dup, NC_000010.10:g.71035851_71035875dup, NG_012077.1:g.11103_11120del, NG_012077.1:g.11104_11120del, NG_012077.1:g.11105_11120del, NG_012077.1:g.11106_11120del, NG_012077.1:g.11107_11120del, NG_012077.1:g.11108_11120del, NG_012077.1:g.11109_11120del, NG_012077.1:g.11110_11120del, NG_012077.1:g.11111_11120del, NG_012077.1:g.11112_11120del, NG_012077.1:g.11113_11120del, NG_012077.1:g.11114_11120del, NG_012077.1:g.11115_11120del, NG_012077.1:g.11116_11120del, NG_012077.1:g.11117_11120del, NG_012077.1:g.11118_11120del, NG_012077.1:g.11119_11120del, NG_012077.1:g.11120del, NG_012077.1:g.11120dup, NG_012077.1:g.11119_11120dup, NG_012077.1:g.11118_11120dup, NG_012077.1:g.11117_11120dup, NG_012077.1:g.11116_11120dup, NG_012077.1:g.11115_11120dup, NG_012077.1:g.11114_11120dup, NG_012077.1:g.11113_11120dup, NG_012077.1:g.11112_11120dup, NG_012077.1:g.11111_11120dup, NG_012077.1:g.11110_11120dup, NG_012077.1:g.11109_11120dup, NG_012077.1:g.11107_11120dup, NG_012077.1:g.11102_11120dup, NG_012077.1:g.11097_11120dup, NG_012077.1:g.11096_11120dup

Select item 149148908712.

rs1491489087 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 10:69276136 (GRCh38)
10:71035892 (GRCh37)
Canonical SPDI:: NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATATATA,NC_000010.11:69276122:ATATATATATATATATA:ATATATATATATATATATATATATATA
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
-=0.13773/974 (TOMMO)
-=0.17347/153 (Korea1K)
HGVS:: NC_000010.11:g.69276124TA[6], NC_000010.11:g.69276124TA[7], NC_000010.11:g.69276124TA[9], NC_000010.11:g.69276124TA[10], NC_000010.11:g.69276124TA[11], NC_000010.11:g.69276124TA[12], NC_000010.11:g.69276124TA[13], NC_000010.10:g.71035880TA[6], NC_000010.10:g.71035880TA[7], NC_000010.10:g.71035880TA[9], NC_000010.10:g.71035880TA[10], NC_000010.10:g.71035880TA[11], NC_000010.10:g.71035880TA[12], NC_000010.10:g.71035880TA[13], NG_012077.1:g.11125TA[6], NG_012077.1:g.11125TA[7], NG_012077.1:g.11125TA[9], NG_012077.1:g.11125TA[10], NG_012077.1:g.11125TA[11], NG_012077.1:g.11125TA[12], NG_012077.1:g.11125TA[13]

Select item 149147431913.

rs1491474319 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:69393293 (GRCh38)
10:71153049 (GRCh37)
Canonical SPDI:: NC_000010.11:69393289:TTTTT:TTT
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.69393293_69393294del, NC_000010.10:g.71153049_71153050del, NG_012077.1:g.128294_128295del

Select item 149145795814.

rs1491457958 has merged into rs61340732 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 10:69302390 (GRCh38)
10:71062146 (GRCh37)
Canonical SPDI:: NC_000010.11:69302379:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:69302379:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:69302379:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:69302379:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:69302379:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0./0 (GENOME_DK)
T=0.0375/139 (TWINSUK)
T=0.0381/147 (ALSPAC)
T=0.1054/63 (NorthernSweden)
T=0.1112/557 (1000Genomes)
HGVS:: NC_000010.11:g.69302390_69302392del, NC_000010.11:g.69302391_69302392del, NC_000010.11:g.69302392del, NC_000010.11:g.69302392dup, NC_000010.11:g.69302391_69302392dup, NC_000010.10:g.71062146_71062148del, NC_000010.10:g.71062147_71062148del, NC_000010.10:g.71062148del, NC_000010.10:g.71062148dup, NC_000010.10:g.71062147_71062148dup, NG_012077.1:g.37391_37393del, NG_012077.1:g.37392_37393del, NG_012077.1:g.37393del, NG_012077.1:g.37393dup, NG_012077.1:g.37392_37393dup

Select item 149145481815.

rs1491454818 has merged into rs1046990181 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:69325053 (GRCh38)
10:71084809 (GRCh37)
Canonical SPDI:: NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:69325044:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.69325053_69325068del, NC_000010.11:g.69325054_69325068del, NC_000010.11:g.69325056_69325068del, NC_000010.11:g.69325057_69325068del, NC_000010.11:g.69325058_69325068del, NC_000010.11:g.69325059_69325068del, NC_000010.11:g.69325060_69325068del, NC_000010.11:g.69325061_69325068del, NC_000010.11:g.69325062_69325068del, NC_000010.11:g.69325063_69325068del, NC_000010.11:g.69325064_69325068del, NC_000010.11:g.69325066_69325068del, NC_000010.11:g.69325067_69325068del, NC_000010.11:g.69325068del, NC_000010.11:g.69325068dup, NC_000010.11:g.69325067_69325068dup, NC_000010.11:g.69325066_69325068dup, NC_000010.11:g.69325065_69325068dup, NC_000010.11:g.69325064_69325068dup, NC_000010.11:g.69325063_69325068dup, NC_000010.11:g.69325062_69325068dup, NC_000010.11:g.69325061_69325068dup, NC_000010.11:g.69325060_69325068dup, NC_000010.11:g.69325059_69325068dup, NC_000010.11:g.69325058_69325068dup, NC_000010.11:g.69325055_69325068dup, NC_000010.11:g.69325054_69325068dup, NC_000010.11:g.69325068_69325069insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.69325068_69325069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.69325068_69325069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.69325068_69325069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.69325068_69325069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.69325068_69325069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.71084809_71084824del, NC_000010.10:g.71084810_71084824del, NC_000010.10:g.71084812_71084824del, NC_000010.10:g.71084813_71084824del, NC_000010.10:g.71084814_71084824del, NC_000010.10:g.71084815_71084824del, NC_000010.10:g.71084816_71084824del, NC_000010.10:g.71084817_71084824del, NC_000010.10:g.71084818_71084824del, NC_000010.10:g.71084819_71084824del, NC_000010.10:g.71084820_71084824del, NC_000010.10:g.71084822_71084824del, NC_000010.10:g.71084823_71084824del, NC_000010.10:g.71084824del, NC_000010.10:g.71084824dup, NC_000010.10:g.71084823_71084824dup, NC_000010.10:g.71084822_71084824dup, NC_000010.10:g.71084821_71084824dup, NC_000010.10:g.71084820_71084824dup, NC_000010.10:g.71084819_71084824dup, NC_000010.10:g.71084818_71084824dup, NC_000010.10:g.71084817_71084824dup, NC_000010.10:g.71084816_71084824dup, NC_000010.10:g.71084815_71084824dup, NC_000010.10:g.71084814_71084824dup, NC_000010.10:g.71084811_71084824dup, NC_000010.10:g.71084810_71084824dup, NC_000010.10:g.71084824_71084825insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.71084824_71084825insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.71084824_71084825insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.71084824_71084825insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.71084824_71084825insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.71084824_71084825insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012077.1:g.60054_60069del, NG_012077.1:g.60055_60069del, NG_012077.1:g.60057_60069del, NG_012077.1:g.60058_60069del, NG_012077.1:g.60059_60069del, NG_012077.1:g.60060_60069del, NG_012077.1:g.60061_60069del, NG_012077.1:g.60062_60069del, NG_012077.1:g.60063_60069del, NG_012077.1:g.60064_60069del, NG_012077.1:g.60065_60069del, NG_012077.1:g.60067_60069del, NG_012077.1:g.60068_60069del, NG_012077.1:g.60069del, NG_012077.1:g.60069dup, NG_012077.1:g.60068_60069dup, NG_012077.1:g.60067_60069dup, NG_012077.1:g.60066_60069dup, NG_012077.1:g.60065_60069dup, NG_012077.1:g.60064_60069dup, NG_012077.1:g.60063_60069dup, NG_012077.1:g.60062_60069dup, NG_012077.1:g.60061_60069dup, NG_012077.1:g.60060_60069dup, NG_012077.1:g.60059_60069dup, NG_012077.1:g.60056_60069dup, NG_012077.1:g.60055_60069dup, NG_012077.1:g.60069_60070insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012077.1:g.60069_60070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012077.1:g.60069_60070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012077.1:g.60069_60070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012077.1:g.60069_60070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012077.1:g.60069_60070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149142739016.

rs1491427390 [Homo sapiens]

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

Select item 149140865617.

rs1491408656 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:69275388 (GRCh38)
10:71035144 (GRCh37)
Canonical SPDI:: NC_000010.11:69275387:TA:
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.69275388_69275389del, NC_000010.10:g.71035144_71035145del, NG_012077.1:g.10389_10390del

Select item 149137376218.

rs1491373762 has merged into rs571297748 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:69283805 (GRCh38)
10:71043561 (GRCh37)
Canonical SPDI:: NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:69283798:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
AAA=0.2983/1494 (1000Genomes)
HGVS:: NC_000010.11:g.69283805_69283817del, NC_000010.11:g.69283806_69283817del, NC_000010.11:g.69283807_69283817del, NC_000010.11:g.69283809_69283817del, NC_000010.11:g.69283811_69283817del, NC_000010.11:g.69283812_69283817del, NC_000010.11:g.69283813_69283817del, NC_000010.11:g.69283814_69283817del, NC_000010.11:g.69283815_69283817del, NC_000010.11:g.69283816_69283817del, NC_000010.11:g.69283817del, NC_000010.11:g.69283817dup, NC_000010.11:g.69283816_69283817dup, NC_000010.11:g.69283815_69283817dup, NC_000010.11:g.69283814_69283817dup, NC_000010.11:g.69283813_69283817dup, NC_000010.11:g.69283812_69283817dup, NC_000010.11:g.69283811_69283817dup, NC_000010.11:g.69283810_69283817dup, NC_000010.11:g.69283809_69283817dup, NC_000010.11:g.69283808_69283817dup, NC_000010.11:g.69283807_69283817dup, NC_000010.11:g.69283806_69283817dup, NC_000010.11:g.69283805_69283817dup, NC_000010.11:g.69283804_69283817dup, NC_000010.11:g.69283803_69283817dup, NC_000010.11:g.69283802_69283817dup, NC_000010.11:g.69283801_69283817dup, NC_000010.11:g.69283800_69283817dup, NC_000010.11:g.69283799_69283817dup, NC_000010.11:g.69283817_69283818insAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.69283817_69283818insAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.69283817_69283818insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.69283817_69283818insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.69283817_69283818insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.69283817_69283818insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.71043561_71043573del, NC_000010.10:g.71043562_71043573del, NC_000010.10:g.71043563_71043573del, NC_000010.10:g.71043565_71043573del, NC_000010.10:g.71043567_71043573del, NC_000010.10:g.71043568_71043573del, NC_000010.10:g.71043569_71043573del, NC_000010.10:g.71043570_71043573del, NC_000010.10:g.71043571_71043573del, NC_000010.10:g.71043572_71043573del, NC_000010.10:g.71043573del, NC_000010.10:g.71043573dup, NC_000010.10:g.71043572_71043573dup, NC_000010.10:g.71043571_71043573dup, NC_000010.10:g.71043570_71043573dup, NC_000010.10:g.71043569_71043573dup, NC_000010.10:g.71043568_71043573dup, NC_000010.10:g.71043567_71043573dup, NC_000010.10:g.71043566_71043573dup, NC_000010.10:g.71043565_71043573dup, NC_000010.10:g.71043564_71043573dup, NC_000010.10:g.71043563_71043573dup, NC_000010.10:g.71043562_71043573dup, NC_000010.10:g.71043561_71043573dup, NC_000010.10:g.71043560_71043573dup, NC_000010.10:g.71043559_71043573dup, NC_000010.10:g.71043558_71043573dup, NC_000010.10:g.71043557_71043573dup, NC_000010.10:g.71043556_71043573dup, NC_000010.10:g.71043555_71043573dup, NC_000010.10:g.71043573_71043574insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.71043573_71043574insAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.71043573_71043574insAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.71043573_71043574insAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.71043573_71043574insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.71043573_71043574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012077.1:g.18806_18818del, NG_012077.1:g.18807_18818del, NG_012077.1:g.18808_18818del, NG_012077.1:g.18810_18818del, NG_012077.1:g.18812_18818del, NG_012077.1:g.18813_18818del, NG_012077.1:g.18814_18818del, NG_012077.1:g.18815_18818del, NG_012077.1:g.18816_18818del, NG_012077.1:g.18817_18818del, NG_012077.1:g.18818del, NG_012077.1:g.18818dup, NG_012077.1:g.18817_18818dup, NG_012077.1:g.18816_18818dup, NG_012077.1:g.18815_18818dup, NG_012077.1:g.18814_18818dup, NG_012077.1:g.18813_18818dup, NG_012077.1:g.18812_18818dup, NG_012077.1:g.18811_18818dup, NG_012077.1:g.18810_18818dup, NG_012077.1:g.18809_18818dup, NG_012077.1:g.18808_18818dup, NG_012077.1:g.18807_18818dup, NG_012077.1:g.18806_18818dup, NG_012077.1:g.18805_18818dup, NG_012077.1:g.18804_18818dup, NG_012077.1:g.18803_18818dup, NG_012077.1:g.18802_18818dup, NG_012077.1:g.18801_18818dup, NG_012077.1:g.18800_18818dup, NG_012077.1:g.18818_18819insAAAAAAAAAAAAAAAAAAAA, NG_012077.1:g.18818_18819insAAAAAAAAAAAAAAAAAAAAA, NG_012077.1:g.18818_18819insAAAAAAAAAAAAAAAAAAAAAA, NG_012077.1:g.18818_18819insAAAAAAAAAAAAAAAAAAAAAAA, NG_012077.1:g.18818_18819insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012077.1:g.18818_18819insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149137121419.

rs1491371214 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:69302379 (GRCh38)
10:71062135 (GRCh37)
Canonical SPDI:: NC_000010.11:69302378:AT:
Gene:: HK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00007/3 (GnomAD)
HGVS:: NC_000010.11:g.69302379_69302380del, NC_000010.10:g.71062135_71062136del, NG_012077.1:g.37380_37381del

Select item 149135664320.

rs1491356643 has merged into rs766090878 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 10:69325540 (GRCh38)
10:71085296 (GRCh37)
Canonical SPDI:: NC_000010.11:69325526:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:69325526:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:69325526:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:69325526:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:69325526:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:69325526:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: HK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000010.11:g.69325540_69325543del, NC_000010.11:g.69325541_69325543del, NC_000010.11:g.69325542_69325543del, NC_000010.11:g.69325543del, NC_000010.11:g.69325543dup, NC_000010.11:g.69325542_69325543dup, NC_000010.10:g.71085296_71085299del, NC_000010.10:g.71085297_71085299del, NC_000010.10:g.71085298_71085299del, NC_000010.10:g.71085299del, NC_000010.10:g.71085299dup, NC_000010.10:g.71085298_71085299dup, NG_012077.1:g.60541_60544del, NG_012077.1:g.60542_60544del, NG_012077.1:g.60543_60544del, NG_012077.1:g.60544del, NG_012077.1:g.60544dup, NG_012077.1:g.60543_60544dup

<< First< Prev

Page of 1531

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 30608

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity