SNP Links for Gene (Select 60491) - SNP

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Select item 14913268321.

rs1491326832 has merged into rs59288201 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:200888069 (GRCh38)
2:201752792 (GRCh37)
Canonical SPDI:: NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPIL3 (Varview), NIF3L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.200888069_200888074del, NC_000002.12:g.200888070_200888074del, NC_000002.12:g.200888071_200888074del, NC_000002.12:g.200888072_200888074del, NC_000002.12:g.200888073_200888074del, NC_000002.12:g.200888074del, NC_000002.12:g.200888074dup, NC_000002.12:g.200888073_200888074dup, NC_000002.12:g.200888072_200888074dup, NC_000002.12:g.200888071_200888074dup, NC_000002.12:g.200888070_200888074dup, NC_000002.12:g.200888069_200888074dup, NC_000002.12:g.200888068_200888074dup, NC_000002.11:g.201752792_201752797del, NC_000002.11:g.201752793_201752797del, NC_000002.11:g.201752794_201752797del, NC_000002.11:g.201752795_201752797del, NC_000002.11:g.201752796_201752797del, NC_000002.11:g.201752797del, NC_000002.11:g.201752797dup, NC_000002.11:g.201752796_201752797dup, NC_000002.11:g.201752795_201752797dup, NC_000002.11:g.201752794_201752797dup, NC_000002.11:g.201752793_201752797dup, NC_000002.11:g.201752792_201752797dup, NC_000002.11:g.201752791_201752797dup

Select item 14912292402.

rs1491229240 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:200888855 (GRCh38)
2:201753578 (GRCh37)
Canonical SPDI:: NC_000002.12:200888853:CAC:C
Gene:: PPIL3 (Varview), NIF3L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.200888855_200888856del, NC_000002.11:g.201753578_201753579del, NG_082790.1:g.243_244del, XM_017004354.3:c.-596_-595del, NM_131916.1:c.-261_-260del

Select item 14910684203.

rs1491068420 has merged into rs59288201 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:200888069 (GRCh38)
2:201752792 (GRCh37)
Canonical SPDI:: NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:200888054:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPIL3 (Varview), NIF3L1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.200888069_200888074del, NC_000002.12:g.200888070_200888074del, NC_000002.12:g.200888071_200888074del, NC_000002.12:g.200888072_200888074del, NC_000002.12:g.200888073_200888074del, NC_000002.12:g.200888074del, NC_000002.12:g.200888074dup, NC_000002.12:g.200888073_200888074dup, NC_000002.12:g.200888072_200888074dup, NC_000002.12:g.200888071_200888074dup, NC_000002.12:g.200888070_200888074dup, NC_000002.12:g.200888069_200888074dup, NC_000002.12:g.200888068_200888074dup, NC_000002.11:g.201752792_201752797del, NC_000002.11:g.201752793_201752797del, NC_000002.11:g.201752794_201752797del, NC_000002.11:g.201752795_201752797del, NC_000002.11:g.201752796_201752797del, NC_000002.11:g.201752797del, NC_000002.11:g.201752797dup, NC_000002.11:g.201752796_201752797dup, NC_000002.11:g.201752795_201752797dup, NC_000002.11:g.201752794_201752797dup, NC_000002.11:g.201752793_201752797dup, NC_000002.11:g.201752792_201752797dup, NC_000002.11:g.201752791_201752797dup

Select item 14906697844.

rs1490669784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:200890284 (GRCh38)
2:201755007 (GRCh37)
Canonical SPDI:: NC_000002.12:200890283:A:T
Gene:: PPIL3 (Varview), NIF3L1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200890284A>T, NC_000002.11:g.201755007A>T, XM_047445371.1:c.-1660A>T, XM_047445372.1:c.-510A>T, NM_001369442.1:c.-328A>T, NM_001369443.1:c.-358A>T

Select item 14903888105.

rs1490388810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:200902689 (GRCh38)
2:201767412 (GRCh37)
Canonical SPDI:: NC_000002.12:200902688:T:C
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000248/4 (TOMMO)
C=0.000684/2 (KOREAN)
C=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.200902689T>C, NC_000002.11:g.201767412T>C

Select item 14900652576.

rs1490065257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:200893248 (GRCh38)
2:201757971 (GRCh37)
Canonical SPDI:: NC_000002.12:200893247:G:C
Gene:: NIF3L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200893248G>C, NC_000002.11:g.201757971G>C, NM_021824.3:c.358G>C, NM_001369445.2:c.439G>C, NM_001369445.1:c.439G>C, NM_001369441.2:c.439G>C, NM_001369441.1:c.439G>C, NM_001136039.2:c.439G>C, XM_047445371.1:c.439G>C, XM_047445372.1:c.439G>C, NM_001369442.1:c.439G>C, NM_001369443.1:c.358G>C, NM_001369444.1:c.439G>C, NM_001142355.1:c.358G>C, NM_001142356.1:c.439G>C, NP_068596.2:p.Ala120Pro, NP_001356374.1:p.Ala147Pro, NP_001356370.1:p.Ala147Pro, NP_001129511.1:p.Ala147Pro, XP_047301327.1:p.Ala147Pro, XP_047301328.1:p.Ala147Pro, NP_001356371.1:p.Ala147Pro, NP_001356372.1:p.Ala120Pro, NP_001356373.1:p.Ala147Pro, NP_001135827.1:p.Ala120Pro, NP_001135828.1:p.Ala147Pro

Select item 14899010377.

rs1489901037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200892652 (GRCh38)
2:201757375 (GRCh37)
Canonical SPDI:: NC_000002.12:200892651:C:T
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200892652C>T, NC_000002.11:g.201757375C>T

Select item 14898751338.

rs1489875133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:200891458 (GRCh38)
2:201756181 (GRCh37)
Canonical SPDI:: NC_000002.12:200891457:G:C
Gene:: NIF3L1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200891458G>C, NC_000002.11:g.201756181G>C, XM_047445371.1:c.-486G>C

Select item 14894883949.

rs1489488394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:200897056 (GRCh38)
2:201761779 (GRCh37)
Canonical SPDI:: NC_000002.12:200897055:T:A
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200897056T>A, NC_000002.11:g.201761779T>A

Select item 148912780610.

rs1489127806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:200896269 (GRCh38)
2:201760992 (GRCh37)
Canonical SPDI:: NC_000002.12:200896268:T:C
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200896269T>C, NC_000002.11:g.201760992T>C

Select item 148910655711.

rs1489106557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200898972 (GRCh38)
2:201763695 (GRCh37)
Canonical SPDI:: NC_000002.12:200898971:C:T
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.200898972C>T, NC_000002.11:g.201763695C>T, NG_045343.1:g.53C>T

Select item 148883163112.

rs1488831631 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:200894537 (GRCh38)
2:201759260 (GRCh37)
Canonical SPDI:: NC_000002.12:200894536:AC:
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200894537_200894538del, NC_000002.11:g.201759260_201759261del

Select item 148880045213.

rs1488800452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:200895760 (GRCh38)
2:201760483 (GRCh37)
Canonical SPDI:: NC_000002.12:200895759:T:G
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.200895760T>G, NC_000002.11:g.201760483T>G

Select item 148878097114.

rs1488780971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:200894580 (GRCh38)
2:201759303 (GRCh37)
Canonical SPDI:: NC_000002.12:200894579:G:C
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.200894580G>C, NC_000002.11:g.201759303G>C

Select item 148855865715.

rs1488558657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200888160 (GRCh38)
2:201752883 (GRCh37)
Canonical SPDI:: NC_000002.12:200888159:C:T
Gene:: PPIL3 (Varview), NIF3L1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200888160C>T, NC_000002.11:g.201752883C>T

Select item 148840438816.

rs1488404388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200892011 (GRCh38)
2:201756734 (GRCh37)
Canonical SPDI:: NC_000002.12:200892010:C:T
Gene:: NIF3L1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.200892011C>T, NC_000002.11:g.201756734C>T, NM_021824.3:c.-14C>T, NM_001369445.2:c.68C>T, NM_001369445.1:c.68C>T, NM_001369441.2:c.68C>T, NM_001369441.1:c.68C>T, NM_001136039.2:c.68C>T, XM_047445371.1:c.68C>T, XM_047445372.1:c.68C>T, NM_001369442.1:c.68C>T, NM_001369443.1:c.-14C>T, NM_001369444.1:c.68C>T, NM_001142355.1:c.-14C>T, NM_001142356.1:c.68C>T, NP_001356374.1:p.Ser23Phe, NP_001356370.1:p.Ser23Phe, NP_001129511.1:p.Ser23Phe, XP_047301327.1:p.Ser23Phe, XP_047301328.1:p.Ser23Phe, NP_001356371.1:p.Ser23Phe, NP_001356373.1:p.Ser23Phe, NP_001135828.1:p.Ser23Phe

Select item 148826611417.

rs1488266114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:200887835 (GRCh38)
2:201752558 (GRCh37)
Canonical SPDI:: NC_000002.12:200887834:T:A
Gene:: PPIL3 (Varview), NIF3L1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.200887835T>A, NC_000002.11:g.201752558T>A

Select item 148801777718.

rs1488017777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:200894139 (GRCh38)
2:201758862 (GRCh37)
Canonical SPDI:: NC_000002.12:200894138:A:C,NC_000002.12:200894138:A:T
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00004/1 (TOMMO)
C=0.00171/5 (KOREAN)
HGVS:: NC_000002.12:g.200894139A>C, NC_000002.12:g.200894139A>T, NC_000002.11:g.201758862A>C, NC_000002.11:g.201758862A>T

Select item 148797348519.

rs1487973485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200888051 (GRCh38)
2:201752774 (GRCh37)
Canonical SPDI:: NC_000002.12:200888050:C:T
Gene:: PPIL3 (Varview), NIF3L1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000002.12:g.200888051C>T, NC_000002.11:g.201752774C>T

Select item 148785866220.

rs1487858662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:200903462 (GRCh38)
2:201768185 (GRCh37)
Canonical SPDI:: NC_000002.12:200903461:C:T
Gene:: NIF3L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.200903462C>T, NC_000002.11:g.201768185C>T

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