SNP Links for Nucleotide (Select 695130864) - SNP

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Select item 14915022881.

rs1491502288 has merged into rs71455187 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:120441988 (GRCh38)
12:120879791 (GRCh37)
Canonical SPDI:: NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441977:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.120441988_120442002del, NC_000012.12:g.120441989_120442002del, NC_000012.12:g.120441990_120442002del, NC_000012.12:g.120441992_120442002del, NC_000012.12:g.120441993_120442002del, NC_000012.12:g.120441994_120442002del, NC_000012.12:g.120441995_120442002del, NC_000012.12:g.120441996_120442002del, NC_000012.12:g.120441997_120442002del, NC_000012.12:g.120441998_120442002del, NC_000012.12:g.120441999_120442002del, NC_000012.12:g.120442000_120442002del, NC_000012.12:g.120442001_120442002del, NC_000012.12:g.120442002del, NC_000012.12:g.120442002dup, NC_000012.12:g.120442001_120442002dup, NC_000012.12:g.120442000_120442002dup, NC_000012.12:g.120441999_120442002dup, NC_000012.12:g.120441998_120442002dup, NC_000012.12:g.120441997_120442002dup, NC_000012.12:g.120441996_120442002dup, NC_000012.12:g.120441994_120442002dup, NC_000012.12:g.120441993_120442002dup, NC_000012.12:g.120441988_120442002dup, NC_000012.12:g.120441985_120442002dup, NC_000012.12:g.120442002_120442003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120879791_120879805del, NC_000012.11:g.120879792_120879805del, NC_000012.11:g.120879793_120879805del, NC_000012.11:g.120879795_120879805del, NC_000012.11:g.120879796_120879805del, NC_000012.11:g.120879797_120879805del, NC_000012.11:g.120879798_120879805del, NC_000012.11:g.120879799_120879805del, NC_000012.11:g.120879800_120879805del, NC_000012.11:g.120879801_120879805del, NC_000012.11:g.120879802_120879805del, NC_000012.11:g.120879803_120879805del, NC_000012.11:g.120879804_120879805del, NC_000012.11:g.120879805del, NC_000012.11:g.120879805dup, NC_000012.11:g.120879804_120879805dup, NC_000012.11:g.120879803_120879805dup, NC_000012.11:g.120879802_120879805dup, NC_000012.11:g.120879801_120879805dup, NC_000012.11:g.120879800_120879805dup, NC_000012.11:g.120879799_120879805dup, NC_000012.11:g.120879797_120879805dup, NC_000012.11:g.120879796_120879805dup, NC_000012.11:g.120879791_120879805dup, NC_000012.11:g.120879788_120879805dup, NC_000012.11:g.120879805_120879806insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034299.1:g.8899_8913del, NG_034299.1:g.8900_8913del, NG_034299.1:g.8901_8913del, NG_034299.1:g.8903_8913del, NG_034299.1:g.8904_8913del, NG_034299.1:g.8905_8913del, NG_034299.1:g.8906_8913del, NG_034299.1:g.8907_8913del, NG_034299.1:g.8908_8913del, NG_034299.1:g.8909_8913del, NG_034299.1:g.8910_8913del, NG_034299.1:g.8911_8913del, NG_034299.1:g.8912_8913del, NG_034299.1:g.8913del, NG_034299.1:g.8913dup, NG_034299.1:g.8912_8913dup, NG_034299.1:g.8911_8913dup, NG_034299.1:g.8910_8913dup, NG_034299.1:g.8909_8913dup, NG_034299.1:g.8908_8913dup, NG_034299.1:g.8907_8913dup, NG_034299.1:g.8905_8913dup, NG_034299.1:g.8904_8913dup, NG_034299.1:g.8899_8913dup, NG_034299.1:g.8896_8913dup, NG_034299.1:g.8913_8914insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912638162.

rs1491263816 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATTAT,ATTATTAT [Show Flanks]
Chromosome:: 12:120441978 (GRCh38)
12:120879782 (GRCh37)
Canonical SPDI:: NC_000012.12:120441978:T:TAT,NC_000012.12:120441978:T:TATTAT,NC_000012.12:120441978:T:TATTATTAT
Validated:: by frequency,by alfa
MAF:: TATTAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.120441979_120441980insAT, NC_000012.12:g.120441979_120441980insATTAT, NC_000012.12:g.120441979_120441980insATTATTAT, NC_000012.11:g.120879782_120879783insAT, NC_000012.11:g.120879782_120879783insATTAT, NC_000012.11:g.120879782_120879783insATTATTAT, NG_034299.1:g.8890_8891insAT, NG_034299.1:g.8890_8891insATTAT, NG_034299.1:g.8890_8891insATTATTAT

Select item 14910485483.

rs1491048548 has merged into rs200906448 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:120441474 (GRCh38)
12:120879277 (GRCh37)
Canonical SPDI:: NC_000012.12:120441467:TTTTTTTT:TTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:120441467:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.001/16 (ALFA)
T=0.00492/9 (Korea1K)
T=0.02405/154 (1000Genomes)
HGVS:: NC_000012.12:g.120441474_120441475del, NC_000012.12:g.120441475del, NC_000012.12:g.120441475dup, NC_000012.12:g.120441474_120441475dup, NC_000012.12:g.120441473_120441475dup, NC_000012.12:g.120441472_120441475dup, NC_000012.12:g.120441471_120441475dup, NC_000012.12:g.120441470_120441475dup, NC_000012.12:g.120441469_120441475dup, NC_000012.12:g.120441468_120441475dup, NC_000012.12:g.120441475_120441476insTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.120441475_120441476insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120879277_120879278del, NC_000012.11:g.120879278del, NC_000012.11:g.120879278dup, NC_000012.11:g.120879277_120879278dup, NC_000012.11:g.120879276_120879278dup, NC_000012.11:g.120879275_120879278dup, NC_000012.11:g.120879274_120879278dup, NC_000012.11:g.120879273_120879278dup, NC_000012.11:g.120879272_120879278dup, NC_000012.11:g.120879271_120879278dup, NC_000012.11:g.120879278_120879279insTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120879278_120879279insTTTTTTTTTTTTTTTTTTTTTTTT, NG_034299.1:g.8385_8386del, NG_034299.1:g.8386del, NG_034299.1:g.8386dup, NG_034299.1:g.8385_8386dup, NG_034299.1:g.8384_8386dup, NG_034299.1:g.8383_8386dup, NG_034299.1:g.8382_8386dup, NG_034299.1:g.8381_8386dup, NG_034299.1:g.8380_8386dup, NG_034299.1:g.8379_8386dup, NG_034299.1:g.8386_8387insTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTTTTTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTTTTTTTTTTTTTT, NG_034299.1:g.8386_8387insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910179444.

rs1491017944 has merged into rs202162457 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 12:120433662 (GRCh38)
12:120871465 (GRCh37)
Canonical SPDI:: NC_000012.12:120433650:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:120433650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:120433650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:120433650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:120433650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:120433650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:120433650:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.11677/433 (TWINSUK)
TT=0.12325/475 (ALSPAC)
T=0.35064/1756 (1000Genomes)
HGVS:: NC_000012.12:g.120433662_120433665del, NC_000012.12:g.120433664_120433665del, NC_000012.12:g.120433665del, NC_000012.12:g.120433665dup, NC_000012.12:g.120433664_120433665dup, NC_000012.12:g.120433663_120433665dup, NC_000012.12:g.120433662_120433665dup, NC_000012.11:g.120871465_120871468del, NC_000012.11:g.120871467_120871468del, NC_000012.11:g.120871468del, NC_000012.11:g.120871468dup, NC_000012.11:g.120871467_120871468dup, NC_000012.11:g.120871466_120871468dup, NC_000012.11:g.120871465_120871468dup, NG_034299.1:g.573_576del, NG_034299.1:g.575_576del, NG_034299.1:g.576del, NG_034299.1:g.576dup, NG_034299.1:g.575_576dup, NG_034299.1:g.574_576dup, NG_034299.1:g.573_576dup

Select item 14910066155.

rs1491006615 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:120441476 (GRCh38)
12:120879279 (GRCh37)
Canonical SPDI:: NC_000012.12:120441474:TCT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000212/4 (TOMMO)
-=0.000649/80 (GnomAD)
-=0.015317/28 (Korea1K)
HGVS:: NC_000012.12:g.120441476_120441477del, NC_000012.11:g.120879279_120879280del, NG_034299.1:g.8387_8388del

Select item 14902743206.

rs1490274320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120436852 (GRCh38)
12:120874655 (GRCh37)
Canonical SPDI:: NC_000012.12:120436851:C:T
Gene:: COX6A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120436852C>T, NC_000012.11:g.120874655C>T, NG_034299.1:g.3763C>T

Select item 14898596017.

rs1489859601 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:120436327 (GRCh38)
12:120874130 (GRCh37)
Canonical SPDI:: NC_000012.12:120436326:C:
Gene:: COX6A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.120436327del, NC_000012.11:g.120874130del, NG_034299.1:g.3238del

Select item 14896764538.

rs1489676453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120441339 (GRCh38)
12:120879142 (GRCh37)
Canonical SPDI:: NC_000012.12:120441338:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120441339T>C, NC_000012.11:g.120879142T>C, NG_034299.1:g.8250T>C

Select item 14892683119.

rs1489268311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120435406 (GRCh38)
12:120873209 (GRCh37)
Canonical SPDI:: NC_000012.12:120435405:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120435406C>T, NC_000012.11:g.120873209C>T, NG_034299.1:g.2317C>T

Select item 148923119310.

rs1489231193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTTTTTTTTT>- [Show Flanks]
Chromosome:: 12:120441977 (GRCh38)
12:120879780 (GRCh37)
Canonical SPDI:: NC_000012.12:120441974:TTATTTTTTTTTTT:TT
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000012.12:g.120441977_120441988del, NC_000012.11:g.120879780_120879791del, NG_034299.1:g.8888_8899del

Select item 148912195211.

rs1489121952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120436379 (GRCh38)
12:120874182 (GRCh37)
Canonical SPDI:: NC_000012.12:120436378:T:C
Gene:: COX6A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120436379T>C, NC_000012.11:g.120874182T>C, NG_034299.1:g.3290T>C

Select item 148894671312.

rs1488946713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:120442187 (GRCh38)
12:120879990 (GRCh37)
Canonical SPDI:: NC_000012.12:120442186:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00089/4 (ALFA)
T=0.0006/10 (TOMMO)
T=0.00164/3 (Korea1K)
HGVS:: NC_000012.12:g.120442187G>T, NC_000012.11:g.120879990G>T, NG_034299.1:g.9098G>T

Select item 148871720013.

rs1488717200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:120434946 (GRCh38)
12:120872749 (GRCh37)
Canonical SPDI:: NC_000012.12:120434945:G:A,NC_000012.12:120434945:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
C=0.000835/14 (TOMMO)
HGVS:: NC_000012.12:g.120434946G>A, NC_000012.12:g.120434946G>C, NC_000012.11:g.120872749G>A, NC_000012.11:g.120872749G>C, NG_034299.1:g.1857G>A, NG_034299.1:g.1857G>C

Select item 148837226014.

rs1488372260 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTTTTTTTTTTTT>- [Show Flanks]
Chromosome:: 12:120441977 (GRCh38)
12:120879780 (GRCh37)
Canonical SPDI:: NC_000012.12:120441974:TTATTTTTTTTTTTTTT:TT
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000012.12:g.120441977_120441991del, NC_000012.11:g.120879780_120879794del, NG_034299.1:g.8888_8902del

Select item 148802094515.

rs1488020945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120441687 (GRCh38)
12:120879490 (GRCh37)
Canonical SPDI:: NC_000012.12:120441686:T:C
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120441687T>C, NC_000012.11:g.120879490T>C, NG_034299.1:g.8598T>C

Select item 148784386716.

rs1487843867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:120433712 (GRCh38)
12:120871515 (GRCh37)
Canonical SPDI:: NC_000012.12:120433711:C:A,NC_000012.12:120433711:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000022/3 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000012.12:g.120433712C>A, NC_000012.12:g.120433712C>T, NC_000012.11:g.120871515C>A, NC_000012.11:g.120871515C>T, NG_034299.1:g.623C>A, NG_034299.1:g.623C>T

Select item 148772780917.

rs1487727809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120436298 (GRCh38)
12:120874101 (GRCh37)
Canonical SPDI:: NC_000012.12:120436297:C:T
Gene:: COX6A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120436298C>T, NC_000012.11:g.120874101C>T, NG_034299.1:g.3209C>T

Select item 148771408618.

rs1487714086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:120441474 (GRCh38)
12:120879277 (GRCh37)
Canonical SPDI:: NC_000012.12:120441473:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.120441474T>G, NC_000012.11:g.120879277T>G, NG_034299.1:g.8385T>G

Select item 148766308719.

rs1487663087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120441494 (GRCh38)
12:120879297 (GRCh37)
Canonical SPDI:: NC_000012.12:120441493:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120441494G>A, NC_000012.11:g.120879297G>A, NG_034299.1:g.8405G>A

Select item 148743492420.

rs1487434924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120435273 (GRCh38)
12:120873076 (GRCh37)
Canonical SPDI:: NC_000012.12:120435272:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120435273A>G, NC_000012.11:g.120873076A>G, NG_034299.1:g.2184A>G

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