SNP Links for Gene (Select 267020) - SNP

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Select item 14914988731.

rs1491498873 has merged into rs58708895 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 22:42639334 (GRCh38)
22:43035340 (GRCh37)
Canonical SPDI:: NC_000022.11:42639323:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:42639323:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:42639323:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:42639323:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:42639323:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000022.11:g.42639334_42639336del, NC_000022.11:g.42639335_42639336del, NC_000022.11:g.42639336del, NC_000022.11:g.42639336dup, NC_000022.11:g.42639335_42639336dup, NC_000022.10:g.43035340_43035342del, NC_000022.10:g.43035341_43035342del, NC_000022.10:g.43035342del, NC_000022.10:g.43035342dup, NC_000022.10:g.43035341_43035342dup, NG_012194.1:g.15074_15076del, NG_012194.1:g.15075_15076del, NG_012194.1:g.15076del, NG_012194.1:g.15076dup, NG_012194.1:g.15075_15076dup

Select item 14913381742.

rs1491338174 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:42639323 (GRCh38)
22:43035329 (GRCh37)
Canonical SPDI:: NC_000022.11:42639322:CA:
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000022.11:g.42639323_42639324del, NC_000022.10:g.43035329_43035330del, NG_012194.1:g.15076_15077del

Select item 14913359293.

rs1491335929 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:42642146 (GRCh38)
22:43038152 (GRCh37)
Canonical SPDI:: NC_000022.11:42642143:CTCT:CT
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000022.11:g.42642144CT[1], NC_000022.10:g.43038150CT[1], NG_012194.1:g.12253AG[1]

Select item 14912399804.

rs1491239980 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 22:42639857 (GRCh38)
22:43035863 (GRCh37)
Canonical SPDI:: NC_000022.11:42639856:TG:
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.0397/153 (ALSPAC)
-=0.04099/152 (TWINSUK)
HGVS:: NC_000022.11:g.42639857_42639858del, NC_000022.10:g.43035863_43035864del, NG_012194.1:g.14542_14543del, NM_198822.1:c.*114_*115del, NM_001165877.1:c.*114_*115del

Select item 14910873085.

rs1491087308 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:42640748 (GRCh38)
22:43036754 (GRCh37)
Canonical SPDI:: NC_000022.11:42640747:CT:
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.00017/45 (TOPMED)
-=0.000242/27 (GnomAD)
HGVS:: NC_000022.11:g.42640748_42640749del, NC_000022.10:g.43036754_43036755del, NG_012194.1:g.13651_13652del

Select item 14908606966.

rs1490860696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42642220 (GRCh38)
22:43038226 (GRCh37)
Canonical SPDI:: NC_000022.11:42642219:T:C
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42642220T>C, NC_000022.10:g.43038226T>C, NG_012194.1:g.12180A>G

Select item 14888526807.

rs1488852680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42639357 (GRCh38)
22:43035363 (GRCh37)
Canonical SPDI:: NC_000022.11:42639356:G:A
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.42639357G>A, NC_000022.10:g.43035363G>A, NG_012194.1:g.15043C>T

Select item 14883696478.

rs1488369647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42641102 (GRCh38)
22:43037108 (GRCh37)
Canonical SPDI:: NC_000022.11:42641101:G:A
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00089/4 (ALFA)
A=0.00089/4 (Estonian)
A=0.00244/41 (TOMMO)
HGVS:: NC_000022.11:g.42641102G>A, NC_000022.10:g.43037108G>A, NG_012194.1:g.13298C>T

Select item 14869035169.

rs1486903516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:42641317 (GRCh38)
22:43037323 (GRCh37)
Canonical SPDI:: NC_000022.11:42641316:T:C
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42641317T>C, NC_000022.10:g.43037323T>C, NG_012194.1:g.13083A>G

Select item 148641541710.

rs1486415417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:42640664 (GRCh38)
22:43036670 (GRCh37)
Canonical SPDI:: NC_000022.11:42640663:A:G
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42640664A>G, NC_000022.10:g.43036670A>G, NG_012194.1:g.13736T>C

Select item 148638415911.

rs1486384159 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 22:42639823 (GRCh38)
22:43035830 (GRCh37)
Canonical SPDI:: NC_000022.11:42639823::CC
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
CC=0.000007/1 (GnomAD)
CC=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.42639823_42639824insCC, NC_000022.10:g.43035829_43035830insCC, NG_012194.1:g.14576_14577insGG, NM_198822.1:c.*148_*149insGG, NM_001165877.1:c.*148_*149insGG

Select item 148587724912.

rs1485877249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:42639567 (GRCh38)
22:43035573 (GRCh37)
Canonical SPDI:: NC_000022.11:42639566:G:C
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.42639567G>C, NC_000022.10:g.43035573G>C, NG_012194.1:g.14833C>G

Select item 148569470813.

rs1485694708 has merged into rs919193890 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTATTT [Show Flanks]
Chromosome:: 22:42640351 (GRCh38)
22:43036357 (GRCh37)
Canonical SPDI:: NC_000022.11:42640350:TT:T,NC_000022.11:42640350:TT:TTT,NC_000022.11:42640350:TT:TTTATTT
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TTTAT=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42640352del, NC_000022.11:g.42640352dup, NC_000022.11:g.42640352_42640353insTATTT, NC_000022.10:g.43036358del, NC_000022.10:g.43036358dup, NC_000022.10:g.43036358_43036359insTATTT, NG_012194.1:g.14049del, NG_012194.1:g.14049dup, NG_012194.1:g.14049_14050insATAAA, NM_198822.1:c.-77del, NM_198822.1:c.-77dup, NM_198822.1:c.-77_-76insATAAA, NM_001165877.1:c.-77del, NM_001165877.1:c.-77dup, NM_001165877.1:c.-77_-76insATAAA

Select item 148523448314.

rs1485234483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:42640262 (GRCh38)
22:43036268 (GRCh37)
Canonical SPDI:: NC_000022.11:42640261:C:A
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.42640262C>A, NC_000022.10:g.43036268C>A, NG_012194.1:g.14138G>T, NM_198822.1:c.13G>T, NM_001165877.1:c.13G>T, NP_001159349.1:p.Val5Phe

Select item 148489752815.

rs1484897528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:42639337 (GRCh38)
22:43035343 (GRCh37)
Canonical SPDI:: NC_000022.11:42639336:G:A,NC_000022.11:42639336:G:T
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.42639337G>A, NC_000022.11:g.42639337G>T, NC_000022.10:g.43035343G>A, NC_000022.10:g.43035343G>T, NG_012194.1:g.15063C>T, NG_012194.1:g.15063C>A

Select item 148472144816.

rs1484721448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42641531 (GRCh38)
22:43037537 (GRCh37)
Canonical SPDI:: NC_000022.11:42641530:G:A
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.42641531G>A, NC_000022.10:g.43037537G>A, NG_012194.1:g.12869C>T

Select item 148415403917.

rs1484154039 [Homo sapiens]

Variant type:: DEL
Alleles:: TCCTGCCTCAGCATCCCAAGTGGGTGGGATT>- [Show Flanks]
Chromosome:: 22:42641594 (GRCh38)
22:43037600 (GRCh37)
Canonical SPDI:: NC_000022.11:42641593:TCCTGCCTCAGCATCCCAAGTGGGTGGGATT:
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.42641594_42641624del, NC_000022.10:g.43037600_43037630del, NG_012194.1:g.12776_12806del

Select item 148233801818.

rs1482338018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:42640772 (GRCh38)
22:43036778 (GRCh37)
Canonical SPDI:: NC_000022.11:42640771:C:T
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.42640772C>T, NC_000022.10:g.43036778C>T, NG_012194.1:g.13628G>A

Select item 148072849419.

rs1480728494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:42642556 (GRCh38)
22:43038562 (GRCh37)
Canonical SPDI:: NC_000022.11:42642555:A:G
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42642556A>G, NC_000022.10:g.43038562A>G, NG_012194.1:g.11844T>C

Select item 148007448220.

rs1480074482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:42641706 (GRCh38)
22:43037712 (GRCh37)
Canonical SPDI:: NC_000022.11:42641705:G:A
Gene:: CYB5R3 (Varview), ATP5MGL (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.42641706G>A, NC_000022.10:g.43037712G>A, NG_012194.1:g.12694C>T