SNP Links for Gene (Select 84365) - SNP

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Select item 14914722811.

rs1491472281 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:121726517 (GRCh38)
2:122484093 (GRCh37)
Canonical SPDI:: NC_000002.12:121726516:CA:
Gene:: NIFK (Varview), NIFK-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.121726517_121726518del, NC_000002.11:g.122484093_122484094del

Select item 14912754282.

rs1491275428 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:121726517 (GRCh38)
2:122484094 (GRCh37)
Canonical SPDI:: NC_000002.12:121726517::T
Gene:: NIFK (Varview), NIFK-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00006/1 (ALFA)
T=0.00012/2 (TOMMO)
HGVS:: NC_000002.12:g.121726517_121726518insT, NC_000002.11:g.122484093_122484094insT

Select item 14912301003.

rs1491230100 has merged into rs34070901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:121726527 (GRCh38)
2:122484103 (GRCh37)
Canonical SPDI:: NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NIFK (Varview), NIFK-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.0184/71 (ALSPAC)
-=0.0232/86 (TWINSUK)
-=0.4429/2218 (1000Genomes)
HGVS:: NC_000002.12:g.121726527_121726535del, NC_000002.12:g.121726529_121726535del, NC_000002.12:g.121726530_121726535del, NC_000002.12:g.121726531_121726535del, NC_000002.12:g.121726532_121726535del, NC_000002.12:g.121726533_121726535del, NC_000002.12:g.121726534_121726535del, NC_000002.12:g.121726535del, NC_000002.12:g.121726535dup, NC_000002.12:g.121726534_121726535dup, NC_000002.12:g.121726533_121726535dup, NC_000002.12:g.121726532_121726535dup, NC_000002.12:g.121726531_121726535dup, NC_000002.12:g.121726526_121726535dup, NC_000002.11:g.122484103_122484111del, NC_000002.11:g.122484105_122484111del, NC_000002.11:g.122484106_122484111del, NC_000002.11:g.122484107_122484111del, NC_000002.11:g.122484108_122484111del, NC_000002.11:g.122484109_122484111del, NC_000002.11:g.122484110_122484111del, NC_000002.11:g.122484111del, NC_000002.11:g.122484111dup, NC_000002.11:g.122484110_122484111dup, NC_000002.11:g.122484109_122484111dup, NC_000002.11:g.122484108_122484111dup, NC_000002.11:g.122484107_122484111dup, NC_000002.11:g.122484102_122484111dup

Select item 14910155924.

rs1491015592 has merged into rs34070901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:121726527 (GRCh38)
2:122484103 (GRCh37)
Canonical SPDI:: NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NIFK (Varview), NIFK-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.0184/71 (ALSPAC)
-=0.0232/86 (TWINSUK)
-=0.4429/2218 (1000Genomes)
HGVS:: NC_000002.12:g.121726527_121726535del, NC_000002.12:g.121726529_121726535del, NC_000002.12:g.121726530_121726535del, NC_000002.12:g.121726531_121726535del, NC_000002.12:g.121726532_121726535del, NC_000002.12:g.121726533_121726535del, NC_000002.12:g.121726534_121726535del, NC_000002.12:g.121726535del, NC_000002.12:g.121726535dup, NC_000002.12:g.121726534_121726535dup, NC_000002.12:g.121726533_121726535dup, NC_000002.12:g.121726532_121726535dup, NC_000002.12:g.121726531_121726535dup, NC_000002.12:g.121726526_121726535dup, NC_000002.11:g.122484103_122484111del, NC_000002.11:g.122484105_122484111del, NC_000002.11:g.122484106_122484111del, NC_000002.11:g.122484107_122484111del, NC_000002.11:g.122484108_122484111del, NC_000002.11:g.122484109_122484111del, NC_000002.11:g.122484110_122484111del, NC_000002.11:g.122484111del, NC_000002.11:g.122484111dup, NC_000002.11:g.122484110_122484111dup, NC_000002.11:g.122484109_122484111dup, NC_000002.11:g.122484108_122484111dup, NC_000002.11:g.122484107_122484111dup, NC_000002.11:g.122484102_122484111dup

Select item 14908199695.

rs1490819969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121738362 (GRCh38)
2:122495938 (GRCh37)
Canonical SPDI:: NC_000002.12:121738361:C:T
Gene:: NIFK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.121738362C>T, NC_000002.11:g.122495938C>T

Select item 14907218956.

rs1490721895 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:121726646 (GRCh38)
2:122484222 (GRCh37)
Canonical SPDI:: NC_000002.12:121726645:G:C
Gene:: NIFK (Varview), NIFK-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_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_000002.12:g.121726646G>C, NC_000002.11:g.122484222G>C

Select item 14906283897.

rs1490628389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:121738897 (GRCh38)
2:122496473 (GRCh37)
Canonical SPDI:: NC_000002.12:121738896:T:A
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.121738897T>A, NC_000002.11:g.122496473T>A

Select item 14904922478.

rs1490492247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:121733303 (GRCh38)
2:122490879 (GRCh37)
Canonical SPDI:: NC_000002.12:121733302:T:C
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.121733303T>C, NC_000002.11:g.122490879T>C

Select item 14893646159.

rs1489364615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121730964 (GRCh38)
2:122488540 (GRCh37)
Canonical SPDI:: NC_000002.12:121730963:A:G
Gene:: NIFK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121730964A>G, NC_000002.11:g.122488540A>G, NM_032390.5:c.493T>C, NM_032390.4:c.493T>C, NP_115766.3:p.Phe165Leu

Select item 148879700410.

rs1488797004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121734153 (GRCh38)
2:122491729 (GRCh37)
Canonical SPDI:: NC_000002.12:121734152:A:G
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121734153A>G, NC_000002.11:g.122491729A>G

Select item 148823340311.

rs1488233403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121731853 (GRCh38)
2:122489429 (GRCh37)
Canonical SPDI:: NC_000002.12:121731852:C:T
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.121731853C>T, NC_000002.11:g.122489429C>T

Select item 148801938512.

rs1488019385 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:121737678 (GRCh38)
2:122495254 (GRCh37)
Canonical SPDI:: NC_000002.12:121737677:C:
Gene:: NIFK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.121737678del, NC_000002.11:g.122495254del

Select item 148724905813.

rs1487249058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121736765 (GRCh38)
2:122494341 (GRCh37)
Canonical SPDI:: NC_000002.12:121736764:A:G
Gene:: NIFK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121736765A>G, NC_000002.11:g.122494341A>G, NM_032390.5:c.86T>C, NM_032390.4:c.86T>C, NP_115766.3:p.Val29Ala

Select item 148722173214.

rs1487221732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:121737200 (GRCh38)
2:122494776 (GRCh37)
Canonical SPDI:: NC_000002.12:121737199:G:A,NC_000002.12:121737199:G:C
Gene:: NIFK (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121737200G>A, NC_000002.12:g.121737200G>C, NC_000002.11:g.122494776G>A, NC_000002.11:g.122494776G>C

Select item 148691898215.

rs1486918982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121732910 (GRCh38)
2:122490486 (GRCh37)
Canonical SPDI:: NC_000002.12:121732909:A:G
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00026/4 (ALFA)
G=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.121732910A>G, NC_000002.11:g.122490486A>G

Select item 148672644316.

rs1486726443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121734237 (GRCh38)
2:122491813 (GRCh37)
Canonical SPDI:: NC_000002.12:121734236:A:G
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.121734237A>G, NC_000002.11:g.122491813A>G

Select item 148669420717.

rs1486694207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:121733404 (GRCh38)
2:122490980 (GRCh37)
Canonical SPDI:: NC_000002.12:121733403:A:C,NC_000002.12:121733403:A:T
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121733404A>C, NC_000002.12:g.121733404A>T, NC_000002.11:g.122490980A>C, NC_000002.11:g.122490980A>T

Select item 148665191218.

rs1486651912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:121730303 (GRCh38)
2:122487879 (GRCh37)
Canonical SPDI:: NC_000002.12:121730302:C:T
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.121730303C>T, NC_000002.11:g.122487879C>T

Select item 148636620819.

rs1486366208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:121731847 (GRCh38)
2:122489423 (GRCh37)
Canonical SPDI:: NC_000002.12:121731846:G:C
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.121731847G>C, NC_000002.11:g.122489423G>C

Select item 148571643320.

rs1485716433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121730014 (GRCh38)
2:122487590 (GRCh37)
Canonical SPDI:: NC_000002.12:121730013:A:G
Gene:: NIFK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.121730014A>G, NC_000002.11:g.122487590A>G

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