SNP Links for Gene (Select 4705) - SNP

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Select item 14915776081.

rs1491577608 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:239911680 (GRCh38)
2:240851097 (GRCh37)
Canonical SPDI:: NC_000002.12:239911678:GCG:G
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000306/5 (ALFA)
-=0.000121/32 (TOPMED)
-=0.000231/32 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.239911680_239911681del, NC_000002.11:g.240851097_240851098del, NG_031855.2:g.118723_118724del

Select item 14915689862.

rs1491568986 [Homo sapiens]

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

Select item 14914775183.

rs1491477518 has merged into rs4149568 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:239972153 (GRCh38)
2:240911570 (GRCh37)
Canonical SPDI:: NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:239972137:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NDUFA10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.239972139GT[7], NC_000002.12:g.239972139GT[8], NC_000002.12:g.239972139GT[9], NC_000002.12:g.239972139GT[10], NC_000002.12:g.239972139GT[11], NC_000002.12:g.239972139GT[12], NC_000002.12:g.239972139GT[13], NC_000002.12:g.239972139GT[14], NC_000002.12:g.239972139GT[15], NC_000002.12:g.239972139GT[17], NC_000002.12:g.239972139GT[18], NC_000002.12:g.239972139GT[19], NC_000002.12:g.239972139GT[20], NC_000002.12:g.239972139GT[21], NC_000002.12:g.239972139GT[22], NC_000002.11:g.240911556GT[7], NC_000002.11:g.240911556GT[8], NC_000002.11:g.240911556GT[9], NC_000002.11:g.240911556GT[10], NC_000002.11:g.240911556GT[11], NC_000002.11:g.240911556GT[12], NC_000002.11:g.240911556GT[13], NC_000002.11:g.240911556GT[14], NC_000002.11:g.240911556GT[15], NC_000002.11:g.240911556GT[17], NC_000002.11:g.240911556GT[18], NC_000002.11:g.240911556GT[19], NC_000002.11:g.240911556GT[20], NC_000002.11:g.240911556GT[21], NC_000002.11:g.240911556GT[22], NG_031855.2:g.58234CA[7], NG_031855.2:g.58234CA[8], NG_031855.2:g.58234CA[9], NG_031855.2:g.58234CA[10], NG_031855.2:g.58234CA[11], NG_031855.2:g.58234CA[12], NG_031855.2:g.58234CA[13], NG_031855.2:g.58234CA[14], NG_031855.2:g.58234CA[15], NG_031855.2:g.58234CA[17], NG_031855.2:g.58234CA[18], NG_031855.2:g.58234CA[19], NG_031855.2:g.58234CA[20], NG_031855.2:g.58234CA[21], NG_031855.2:g.58234CA[22]

Select item 14914670044.

rs1491467004 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 2:239995930 (GRCh38)
2:240935348 (GRCh37)
Canonical SPDI:: NC_000002.12:239995930:TAT:TATTAT
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0./0 (ALFA)
TAT=0.000036/5 (GnomAD)
TAT=0.000064/17 (TOPMED)
TAT=0.000468/3 (1000Genomes)
HGVS:: NC_000002.12:g.239995931_239995933dup, NC_000002.11:g.240935348_240935350dup, NG_031855.2:g.34470_34472dup, XM_047444487.1:c.*4451_*4453dup

Select item 14914434385.

rs1491443438 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:240002330 (GRCh38)
2:240941747 (GRCh37)
Canonical SPDI:: NC_000002.12:240002329:CA:
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000002.12:g.240002330_240002331del, NC_000002.11:g.240941747_240941748del, NG_031855.2:g.28072_28073del

Select item 14914182986.

rs1491418298 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACCC,ACACACACCC,ACACACCC,ACACCC [Show Flanks]
Chromosome:: 2:239962239 (GRCh38)
2:240901657 (GRCh37)
Canonical SPDI:: NC_000002.12:239962239:C:CACACACACACCC,NC_000002.12:239962239:C:CACACACACCC,NC_000002.12:239962239:C:CACACACCC,NC_000002.12:239962239:C:CACACCC
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACCC=0./0 (ALFA)
CACACC=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.239962240CA[5]CCC[1], NC_000002.12:g.239962240CA[4]CCC[1], NC_000002.12:g.239962240CA[3]CCC[1], NC_000002.12:g.239962240CA[2]CCC[1], NC_000002.11:g.240901657CA[5]CCC[1], NC_000002.11:g.240901657CA[4]CCC[1], NC_000002.11:g.240901657CA[3]CCC[1], NC_000002.11:g.240901657CA[2]CCC[1], NG_031855.2:g.68163_68164insGGTGTGTGTGTG, NG_031855.2:g.68163_68164insGGTGTGTGTG, NG_031855.2:g.68163_68164insGGTGTGTG, NG_031855.2:g.68163_68164insGGTGTG

Select item 14913845147.

rs1491384514 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:239972137 (GRCh38)
2:240911554 (GRCh37)
Canonical SPDI:: NC_000002.12:239972136:AT:
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.239972137_239972138del, NC_000002.11:g.240911554_240911555del, NG_031855.2:g.58265_58266del

Select item 14913761308.

rs1491376130 has merged into rs4149560 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: 2:240027003 (GRCh38)
2:240966420 (GRCh37)
Canonical SPDI:: NC_000002.12:240026994:GGGGGGGGGG:GGGGGGGG,NC_000002.12:240026994:GGGGGGGGGG:GGGGGGGGG,NC_000002.12:240026994:GGGGGGGGGG:GGGGGGGGGGG,NC_000002.12:240026994:GGGGGGGGGG:GGGGGGGGGGGG,NC_000002.12:240026994:GGGGGGGGGG:GGGGGGGGGGGGG
Gene:: NDUFA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0.0007/6 (ALFA)
G=0.0137/13 (1000Genomes)
HGVS:: NC_000002.12:g.240027003_240027004del, NC_000002.12:g.240027004del, NC_000002.12:g.240027004dup, NC_000002.12:g.240027003_240027004dup, NC_000002.12:g.240027002_240027004dup, NC_000002.11:g.240966420_240966421del, NC_000002.11:g.240966421del, NC_000002.11:g.240966421dup, NC_000002.11:g.240966420_240966421dup, NC_000002.11:g.240966419_240966421dup, NG_031855.2:g.3407_3408del, NG_031855.2:g.3408del, NG_031855.2:g.3408dup, NG_031855.2:g.3407_3408dup, NG_031855.2:g.3406_3408dup

Select item 14913710779.

rs1491371077 has merged into rs549529252 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:240025955 (GRCh38)
2:240965372 (GRCh37)
Canonical SPDI:: NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240025945:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NDUFA10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0034/2 (NorthernSweden)
HGVS:: NC_000002.12:g.240025955_240025986del, NC_000002.12:g.240025956_240025986del, NC_000002.12:g.240025957_240025986del, NC_000002.12:g.240025958_240025986del, NC_000002.12:g.240025960_240025986del, NC_000002.12:g.240025961_240025986del, NC_000002.12:g.240025962_240025986del, NC_000002.12:g.240025963_240025986del, NC_000002.12:g.240025964_240025986del, NC_000002.12:g.240025965_240025986del, NC_000002.12:g.240025966_240025986del, NC_000002.12:g.240025967_240025986del, NC_000002.12:g.240025968_240025986del, NC_000002.12:g.240025969_240025986del, NC_000002.12:g.240025970_240025986del, NC_000002.12:g.240025971_240025986del, NC_000002.12:g.240025972_240025986del, NC_000002.12:g.240025973_240025986del, NC_000002.12:g.240025974_240025986del, NC_000002.12:g.240025975_240025986del, NC_000002.12:g.240025976_240025986del, NC_000002.12:g.240025977_240025986del, NC_000002.12:g.240025978_240025986del, NC_000002.12:g.240025979_240025986del, NC_000002.12:g.240025980_240025986del, NC_000002.12:g.240025981_240025986del, NC_000002.12:g.240025982_240025986del, NC_000002.12:g.240025983_240025986del, NC_000002.12:g.240025984_240025986del, NC_000002.12:g.240025985_240025986del, NC_000002.12:g.240025986del, NC_000002.12:g.240025986dup, NC_000002.12:g.240025985_240025986dup, NC_000002.12:g.240025984_240025986dup, NC_000002.12:g.240025983_240025986dup, NC_000002.12:g.240025982_240025986dup, NC_000002.12:g.240025981_240025986dup, NC_000002.12:g.240025980_240025986dup, NC_000002.12:g.240025979_240025986dup, NC_000002.12:g.240025978_240025986dup, NC_000002.12:g.240025977_240025986dup, NC_000002.12:g.240025976_240025986dup, NC_000002.12:g.240025975_240025986dup, NC_000002.12:g.240025971_240025986dup, NC_000002.12:g.240025986_240025987insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.240965372_240965403del, NC_000002.11:g.240965373_240965403del, NC_000002.11:g.240965374_240965403del, NC_000002.11:g.240965375_240965403del, NC_000002.11:g.240965377_240965403del, NC_000002.11:g.240965378_240965403del, NC_000002.11:g.240965379_240965403del, NC_000002.11:g.240965380_240965403del, NC_000002.11:g.240965381_240965403del, NC_000002.11:g.240965382_240965403del, NC_000002.11:g.240965383_240965403del, NC_000002.11:g.240965384_240965403del, NC_000002.11:g.240965385_240965403del, NC_000002.11:g.240965386_240965403del, NC_000002.11:g.240965387_240965403del, NC_000002.11:g.240965388_240965403del, NC_000002.11:g.240965389_240965403del, NC_000002.11:g.240965390_240965403del, NC_000002.11:g.240965391_240965403del, NC_000002.11:g.240965392_240965403del, NC_000002.11:g.240965393_240965403del, NC_000002.11:g.240965394_240965403del, NC_000002.11:g.240965395_240965403del, NC_000002.11:g.240965396_240965403del, NC_000002.11:g.240965397_240965403del, NC_000002.11:g.240965398_240965403del, NC_000002.11:g.240965399_240965403del, NC_000002.11:g.240965400_240965403del, NC_000002.11:g.240965401_240965403del, NC_000002.11:g.240965402_240965403del, NC_000002.11:g.240965403del, NC_000002.11:g.240965403dup, NC_000002.11:g.240965402_240965403dup, NC_000002.11:g.240965401_240965403dup, NC_000002.11:g.240965400_240965403dup, NC_000002.11:g.240965399_240965403dup, NC_000002.11:g.240965398_240965403dup, NC_000002.11:g.240965397_240965403dup, NC_000002.11:g.240965396_240965403dup, NC_000002.11:g.240965395_240965403dup, NC_000002.11:g.240965394_240965403dup, NC_000002.11:g.240965393_240965403dup, NC_000002.11:g.240965392_240965403dup, NC_000002.11:g.240965388_240965403dup, NC_000002.11:g.240965403_240965404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_031855.2:g.4426_4457del, NG_031855.2:g.4427_4457del, NG_031855.2:g.4428_4457del, NG_031855.2:g.4429_4457del, NG_031855.2:g.4431_4457del, NG_031855.2:g.4432_4457del, NG_031855.2:g.4433_4457del, NG_031855.2:g.4434_4457del, NG_031855.2:g.4435_4457del, NG_031855.2:g.4436_4457del, NG_031855.2:g.4437_4457del, NG_031855.2:g.4438_4457del, NG_031855.2:g.4439_4457del, NG_031855.2:g.4440_4457del, NG_031855.2:g.4441_4457del, NG_031855.2:g.4442_4457del, NG_031855.2:g.4443_4457del, NG_031855.2:g.4444_4457del, NG_031855.2:g.4445_4457del, NG_031855.2:g.4446_4457del, NG_031855.2:g.4447_4457del, NG_031855.2:g.4448_4457del, NG_031855.2:g.4449_4457del, NG_031855.2:g.4450_4457del, NG_031855.2:g.4451_4457del, NG_031855.2:g.4452_4457del, NG_031855.2:g.4453_4457del, NG_031855.2:g.4454_4457del, NG_031855.2:g.4455_4457del, NG_031855.2:g.4456_4457del, NG_031855.2:g.4457del, NG_031855.2:g.4457dup, NG_031855.2:g.4456_4457dup, NG_031855.2:g.4455_4457dup, NG_031855.2:g.4454_4457dup, NG_031855.2:g.4453_4457dup, NG_031855.2:g.4452_4457dup, NG_031855.2:g.4451_4457dup, NG_031855.2:g.4450_4457dup, NG_031855.2:g.4449_4457dup, NG_031855.2:g.4448_4457dup, NG_031855.2:g.4447_4457dup, NG_031855.2:g.4446_4457dup, NG_031855.2:g.4442_4457dup, NG_031855.2:g.4457_4458insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149136475410.

rs1491364754 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGGGTCAGCAGATGC [Show Flanks]
Chromosome:: 2:239969443 (GRCh38)
2:240908861 (GRCh37)
Canonical SPDI:: NC_000002.12:239969443:C:CGAGGGTCAGCAGATGC
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000002.12:g.239969444_239969445insGAGGGTCAGCAGATGC, NC_000002.11:g.240908861_240908862insGAGGGTCAGCAGATGC, NG_031855.2:g.60959_60960insCATCTGCTGACCCTCG, XM_011511228.4:c.*229_*230insCATCTGCTGACCCTCG, NM_001410987.1:c.*229_*230insCATCTGCTGACCCTCG

Select item 149132330811.

rs1491323308 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:239995934 (GRCh38)
2:240935351 (GRCh37)
Canonical SPDI:: NC_000002.12:239995929:ATATAT:ATAT
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.239995930AT[2], NC_000002.11:g.240935347AT[2], NG_031855.2:g.34468AT[2], XM_047444487.1:c.*4449AT[2]

Select item 149126265712.

rs1491262657 has merged into rs61166045 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 2:239967993 (GRCh38)
2:240907410 (GRCh37)
Canonical SPDI:: NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:239967979:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000002.12:g.239967981CA[6], NC_000002.12:g.239967981CA[7], NC_000002.12:g.239967981CA[8], NC_000002.12:g.239967981CA[9], NC_000002.12:g.239967981CA[10], NC_000002.12:g.239967981CA[11], NC_000002.12:g.239967981CA[12], NC_000002.12:g.239967981CA[13], NC_000002.12:g.239967981CA[14], NC_000002.12:g.239967981CA[16], NC_000002.12:g.239967981CA[17], NC_000002.12:g.239967981CA[18], NC_000002.12:g.239967981CA[19], NC_000002.12:g.239967981CA[20], NC_000002.12:g.239967981CA[21], NC_000002.12:g.239967981CA[22], NC_000002.12:g.239967981CA[23], NC_000002.12:g.239967981CA[24], NC_000002.12:g.239967981CA[25], NC_000002.12:g.239967981CA[26], NC_000002.12:g.239967981CA[27], NC_000002.12:g.239967981CA[29], NC_000002.12:g.239967981CA[31], NC_000002.11:g.240907398CA[6], NC_000002.11:g.240907398CA[7], NC_000002.11:g.240907398CA[8], NC_000002.11:g.240907398CA[9], NC_000002.11:g.240907398CA[10], NC_000002.11:g.240907398CA[11], NC_000002.11:g.240907398CA[12], NC_000002.11:g.240907398CA[13], NC_000002.11:g.240907398CA[14], NC_000002.11:g.240907398CA[16], NC_000002.11:g.240907398CA[17], NC_000002.11:g.240907398CA[18], NC_000002.11:g.240907398CA[19], NC_000002.11:g.240907398CA[20], NC_000002.11:g.240907398CA[21], NC_000002.11:g.240907398CA[22], NC_000002.11:g.240907398CA[23], NC_000002.11:g.240907398CA[24], NC_000002.11:g.240907398CA[25], NC_000002.11:g.240907398CA[26], NC_000002.11:g.240907398CA[27], NC_000002.11:g.240907398CA[29], NC_000002.11:g.240907398CA[31], NG_031855.2:g.62394GT[6], NG_031855.2:g.62394GT[7], NG_031855.2:g.62394GT[8], NG_031855.2:g.62394GT[9], NG_031855.2:g.62394GT[10], NG_031855.2:g.62394GT[11], NG_031855.2:g.62394GT[12], NG_031855.2:g.62394GT[13], NG_031855.2:g.62394GT[14], NG_031855.2:g.62394GT[16], NG_031855.2:g.62394GT[17], NG_031855.2:g.62394GT[18], NG_031855.2:g.62394GT[19], NG_031855.2:g.62394GT[20], NG_031855.2:g.62394GT[21], NG_031855.2:g.62394GT[22], NG_031855.2:g.62394GT[23], NG_031855.2:g.62394GT[24], NG_031855.2:g.62394GT[25], NG_031855.2:g.62394GT[26], NG_031855.2:g.62394GT[27], NG_031855.2:g.62394GT[29], NG_031855.2:g.62394GT[31]

Select item 149125989313.

rs1491259893 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:239931831 (GRCh38)
2:240871248 (GRCh37)
Canonical SPDI:: NC_000002.12:239931830:CT:
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000002.12:g.239931831_239931832del, NC_000002.11:g.240871248_240871249del, NG_031855.2:g.98571_98572del

Select item 149120276514.

rs1491202765 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:240025946 (GRCh38)
2:240965364 (GRCh37)
Canonical SPDI:: NC_000002.12:240025946::C
Gene:: NDUFA10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.00035/6 (TOMMO)
HGVS:: NC_000002.12:g.240025946_240025947insC, NC_000002.11:g.240965363_240965364insC, NG_031855.2:g.4456_4457insG

Select item 149119101315.

rs1491191013 has merged into rs755963006 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCCACCC>-,CGCCACCCCGCCACCC [Show Flanks]
Chromosome:: 2:240025197 (GRCh38)
2:240964614 (GRCh37)
Canonical SPDI:: NC_000002.12:240025189:GCCACCCCGCCACCC:GCCACCC,NC_000002.12:240025189:GCCACCCCGCCACCC:GCCACCCCGCCACCCCGCCACCC
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCACCCCGCCACCCCGCCACCC=0./0 (ALFA)
GCCACCCC=0.00018/3 (TOMMO)
-=0.00023/3 (GnomAD_exomes)
-=0.00222/1 (ExAC)
HGVS:: NC_000002.12:g.240025197_240025204del, NC_000002.12:g.240025197_240025204dup, NC_000002.11:g.240964614_240964621del, NC_000002.11:g.240964614_240964621dup, NG_031855.2:g.5206_5213del, NG_031855.2:g.5206_5213dup

Select item 149118812516.

rs1491188125 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:239988948 (GRCh38)
2:240928365 (GRCh37)
Canonical SPDI:: NC_000002.12:239988947:GC:
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.239988948_239988949del, NC_000002.11:g.240928365_240928366del, NG_031855.2:g.41454_41455del

Select item 149115523317.

rs1491155233 has merged into rs4149561 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:240026681 (GRCh38)
2:240966098 (GRCh37)
Canonical SPDI:: NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:240026669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NDUFA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTTTT=0.0657/329 (1000Genomes)
HGVS:: NC_000002.12:g.240026681_240026691del, NC_000002.12:g.240026682_240026691del, NC_000002.12:g.240026683_240026691del, NC_000002.12:g.240026684_240026691del, NC_000002.12:g.240026685_240026691del, NC_000002.12:g.240026686_240026691del, NC_000002.12:g.240026687_240026691del, NC_000002.12:g.240026688_240026691del, NC_000002.12:g.240026689_240026691del, NC_000002.12:g.240026690_240026691del, NC_000002.12:g.240026691del, NC_000002.12:g.240026691dup, NC_000002.12:g.240026690_240026691dup, NC_000002.12:g.240026689_240026691dup, NC_000002.12:g.240026688_240026691dup, NC_000002.12:g.240026675_240026691dup, NC_000002.11:g.240966098_240966108del, NC_000002.11:g.240966099_240966108del, NC_000002.11:g.240966100_240966108del, NC_000002.11:g.240966101_240966108del, NC_000002.11:g.240966102_240966108del, NC_000002.11:g.240966103_240966108del, NC_000002.11:g.240966104_240966108del, NC_000002.11:g.240966105_240966108del, NC_000002.11:g.240966106_240966108del, NC_000002.11:g.240966107_240966108del, NC_000002.11:g.240966108del, NC_000002.11:g.240966108dup, NC_000002.11:g.240966107_240966108dup, NC_000002.11:g.240966106_240966108dup, NC_000002.11:g.240966105_240966108dup, NC_000002.11:g.240966092_240966108dup, NG_031855.2:g.3723_3733del, NG_031855.2:g.3724_3733del, NG_031855.2:g.3725_3733del, NG_031855.2:g.3726_3733del, NG_031855.2:g.3727_3733del, NG_031855.2:g.3728_3733del, NG_031855.2:g.3729_3733del, NG_031855.2:g.3730_3733del, NG_031855.2:g.3731_3733del, NG_031855.2:g.3732_3733del, NG_031855.2:g.3733del, NG_031855.2:g.3733dup, NG_031855.2:g.3732_3733dup, NG_031855.2:g.3731_3733dup, NG_031855.2:g.3730_3733dup, NG_031855.2:g.3717_3733dup

Select item 149113361418.

rs1491133614 has merged into rs61475593 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:240002338 (GRCh38)
2:240941755 (GRCh37)
Canonical SPDI:: NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:240002330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
AAAA=0./0 (GENOME_DK)
HGVS:: NC_000002.12:g.240002338_240002356del, NC_000002.12:g.240002342_240002356del, NC_000002.12:g.240002343_240002356del, NC_000002.12:g.240002344_240002356del, NC_000002.12:g.240002345_240002356del, NC_000002.12:g.240002346_240002356del, NC_000002.12:g.240002347_240002356del, NC_000002.12:g.240002348_240002356del, NC_000002.12:g.240002349_240002356del, NC_000002.12:g.240002350_240002356del, NC_000002.12:g.240002351_240002356del, NC_000002.12:g.240002352_240002356del, NC_000002.12:g.240002353_240002356del, NC_000002.12:g.240002354_240002356del, NC_000002.12:g.240002355_240002356del, NC_000002.12:g.240002356del, NC_000002.12:g.240002356dup, NC_000002.12:g.240002355_240002356dup, NC_000002.12:g.240002354_240002356dup, NC_000002.12:g.240002353_240002356dup, NC_000002.12:g.240002352_240002356dup, NC_000002.12:g.240002351_240002356dup, NC_000002.12:g.240002350_240002356dup, NC_000002.12:g.240002349_240002356dup, NC_000002.12:g.240002348_240002356dup, NC_000002.12:g.240002347_240002356dup, NC_000002.12:g.240002346_240002356dup, NC_000002.12:g.240002345_240002356dup, NC_000002.12:g.240002339_240002356dup, NC_000002.11:g.240941755_240941773del, NC_000002.11:g.240941759_240941773del, NC_000002.11:g.240941760_240941773del, NC_000002.11:g.240941761_240941773del, NC_000002.11:g.240941762_240941773del, NC_000002.11:g.240941763_240941773del, NC_000002.11:g.240941764_240941773del, NC_000002.11:g.240941765_240941773del, NC_000002.11:g.240941766_240941773del, NC_000002.11:g.240941767_240941773del, NC_000002.11:g.240941768_240941773del, NC_000002.11:g.240941769_240941773del, NC_000002.11:g.240941770_240941773del, NC_000002.11:g.240941771_240941773del, NC_000002.11:g.240941772_240941773del, NC_000002.11:g.240941773del, NC_000002.11:g.240941773dup, NC_000002.11:g.240941772_240941773dup, NC_000002.11:g.240941771_240941773dup, NC_000002.11:g.240941770_240941773dup, NC_000002.11:g.240941769_240941773dup, NC_000002.11:g.240941768_240941773dup, NC_000002.11:g.240941767_240941773dup, NC_000002.11:g.240941766_240941773dup, NC_000002.11:g.240941765_240941773dup, NC_000002.11:g.240941764_240941773dup, NC_000002.11:g.240941763_240941773dup, NC_000002.11:g.240941762_240941773dup, NC_000002.11:g.240941756_240941773dup, NG_031855.2:g.28054_28072del, NG_031855.2:g.28058_28072del, NG_031855.2:g.28059_28072del, NG_031855.2:g.28060_28072del, NG_031855.2:g.28061_28072del, NG_031855.2:g.28062_28072del, NG_031855.2:g.28063_28072del, NG_031855.2:g.28064_28072del, NG_031855.2:g.28065_28072del, NG_031855.2:g.28066_28072del, NG_031855.2:g.28067_28072del, NG_031855.2:g.28068_28072del, NG_031855.2:g.28069_28072del, NG_031855.2:g.28070_28072del, NG_031855.2:g.28071_28072del, NG_031855.2:g.28072del, NG_031855.2:g.28072dup, NG_031855.2:g.28071_28072dup, NG_031855.2:g.28070_28072dup, NG_031855.2:g.28069_28072dup, NG_031855.2:g.28068_28072dup, NG_031855.2:g.28067_28072dup, NG_031855.2:g.28066_28072dup, NG_031855.2:g.28065_28072dup, NG_031855.2:g.28064_28072dup, NG_031855.2:g.28063_28072dup, NG_031855.2:g.28062_28072dup, NG_031855.2:g.28061_28072dup, NG_031855.2:g.28055_28072dup

Select item 149111861819.

rs1491118618 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:240026669 (GRCh38)
2:240966086 (GRCh37)
Canonical SPDI:: NC_000002.12:240026668:AT:
Gene:: NDUFA10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
-=0.00047/3 (1000Genomes)
HGVS:: NC_000002.12:g.240026669_240026670del, NC_000002.11:g.240966086_240966087del, NG_031855.2:g.3733_3734del

Select item 149107094620.

rs1491070946 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 2:239995657 (GRCh38)
2:240935075 (GRCh37)
Canonical SPDI:: NC_000002.12:239995657:G:GCG
Gene:: NDUFA10 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.000008/2 (TOPMED)
GC=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.239995658_239995659insCG, NC_000002.11:g.240935075_240935076insCG, NG_031855.2:g.34745_34746insGC, XM_047444487.1:c.*4726_*4727insGC

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