SNP Links for Gene (Select 474344) - SNP

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Select item 14915656981.

rs1491565698 has merged into rs1163208197 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACA>-,TACATACA [Show Flanks]
Chromosome:: 7:150632025 (GRCh38)
7:150329113 (GRCh37)
Canonical SPDI:: NC_000007.14:150632021:ACATACA:ACA,NC_000007.14:150632021:ACATACA:ACATACATACA
Gene:: GIMAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACATACATACA=0./0 (ALFA)
-=0.000193/27 (GnomAD)
HGVS:: NC_000007.14:g.150632025_150632028del, NC_000007.14:g.150632025_150632028dup, NC_000007.13:g.150329113_150329116del, NC_000007.13:g.150329113_150329116dup

Select item 14913084512.

rs1491308451 has merged into rs58764098 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:150630157 (GRCh38)
7:150327245 (GRCh37)
Canonical SPDI:: NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:150630146:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GIMAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.150630157_150630168del, NC_000007.14:g.150630158_150630168del, NC_000007.14:g.150630159_150630168del, NC_000007.14:g.150630160_150630168del, NC_000007.14:g.150630161_150630168del, NC_000007.14:g.150630162_150630168del, NC_000007.14:g.150630163_150630168del, NC_000007.14:g.150630164_150630168del, NC_000007.14:g.150630165_150630168del, NC_000007.14:g.150630166_150630168del, NC_000007.14:g.150630167_150630168del, NC_000007.14:g.150630168del, NC_000007.14:g.150630168dup, NC_000007.14:g.150630167_150630168dup, NC_000007.14:g.150630166_150630168dup, NC_000007.14:g.150630165_150630168dup, NC_000007.14:g.150630164_150630168dup, NC_000007.14:g.150630163_150630168dup, NC_000007.14:g.150630162_150630168dup, NC_000007.14:g.150630161_150630168dup, NC_000007.13:g.150327245_150327256del, NC_000007.13:g.150327246_150327256del, NC_000007.13:g.150327247_150327256del, NC_000007.13:g.150327248_150327256del, NC_000007.13:g.150327249_150327256del, NC_000007.13:g.150327250_150327256del, NC_000007.13:g.150327251_150327256del, NC_000007.13:g.150327252_150327256del, NC_000007.13:g.150327253_150327256del, NC_000007.13:g.150327254_150327256del, NC_000007.13:g.150327255_150327256del, NC_000007.13:g.150327256del, NC_000007.13:g.150327256dup, NC_000007.13:g.150327255_150327256dup, NC_000007.13:g.150327254_150327256dup, NC_000007.13:g.150327253_150327256dup, NC_000007.13:g.150327252_150327256dup, NC_000007.13:g.150327251_150327256dup, NC_000007.13:g.150327250_150327256dup, NC_000007.13:g.150327249_150327256dup

Select item 14911431173.

rs1491143117 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:150632023 (GRCh38)
7:150329111 (GRCh37)
Canonical SPDI:: NC_000007.14:150632020:CACA:CA
Gene:: GIMAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.150632021CA[1], NC_000007.13:g.150329109CA[1]

Select item 14906254184.

rs1490625418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:150631108 (GRCh38)
7:150328196 (GRCh37)
Canonical SPDI:: NC_000007.14:150631107:A:G
Gene:: GIMAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150631108A>G, NC_000007.13:g.150328196A>G

Select item 14905695945.

rs1490569594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150629053 (GRCh38)
7:150326141 (GRCh37)
Canonical SPDI:: NC_000007.14:150629052:G:A
Gene:: GIMAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000007.14:g.150629053G>A, NC_000007.13:g.150326141G>A

Select item 14903989196.

rs1490398919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150627744 (GRCh38)
7:150324832 (GRCh37)
Canonical SPDI:: NC_000007.14:150627743:C:T
Gene:: GIMAP6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.150627744C>T, NC_000007.13:g.150324832C>T, NM_024711.6:c.854G>A, NM_024711.5:c.854G>A, NM_001244072.2:c.1064G>A, NM_001244072.1:c.1064G>A, NM_001244071.2:c.*441G>A, NM_001244071.1:c.*441G>A, NR_024115.1:n.1054G>A, NM_001007224.1:c.614G>A, NP_078987.3:p.Cys285Tyr, NP_001231001.1:p.Cys355Tyr

Select item 14902695097.

rs1490269509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:150632851 (GRCh38)
7:150329939 (GRCh37)
Canonical SPDI:: NC_000007.14:150632850:T:G
Gene:: GIMAP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.150632851T>G, NC_000007.13:g.150329939T>G

Select item 14893651788.

rs1489365178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150627057 (GRCh38)
7:150324145 (GRCh37)
Canonical SPDI:: NC_000007.14:150627056:C:T
Gene:: GIMAP6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.013333/8 (NorthernSweden)
HGVS:: NC_000007.14:g.150627057C>T, NC_000007.13:g.150324145C>T, NM_024711.6:c.*662G>A, NM_024711.5:c.*662G>A, NM_001244072.2:c.*662G>A, NM_001244072.1:c.*662G>A, NM_001244071.2:c.*1128G>A, NM_001244071.1:c.*1128G>A, NR_024115.1:n.1741G>A, NM_001007224.1:c.*663G>A

Select item 14891403699.

rs1489140369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:150632987 (GRCh38)
7:150330075 (GRCh37)
Canonical SPDI:: NC_000007.14:150632986:G:A,NC_000007.14:150632986:G:T
Gene:: GIMAP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.150632987G>A, NC_000007.14:g.150632987G>T, NC_000007.13:g.150330075G>A, NC_000007.13:g.150330075G>T

Select item 148839402410.

rs1488394024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150631941 (GRCh38)
7:150329029 (GRCh37)
Canonical SPDI:: NC_000007.14:150631940:G:A
Gene:: GIMAP6 (Varview)
Functional Consequence:: intron_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_000007.14:g.150631941G>A, NC_000007.13:g.150329029G>A

Select item 148772790611.

rs1487727906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150626857 (GRCh38)
7:150323945 (GRCh37)
Canonical SPDI:: NC_000007.14:150626856:G:A
Gene:: GIMAP6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150626857G>A, NC_000007.13:g.150323945G>A, NM_024711.6:c.*862C>T, NM_024711.5:c.*862C>T, NM_001244072.2:c.*862C>T, NM_001244072.1:c.*862C>T, NM_001244071.2:c.*1328C>T, NM_001244071.1:c.*1328C>T, NR_024115.1:n.1941C>T, NM_001007224.1:c.*863C>T

Select item 148672886212.

rs1486728862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:150625202 (GRCh38)
7:150322290 (GRCh37)
Canonical SPDI:: NC_000007.14:150625201:A:C,NC_000007.14:150625201:A:G
Gene:: GIMAP6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.150625202A>C, NC_000007.14:g.150625202A>G, NC_000007.13:g.150322290A>C, NC_000007.13:g.150322290A>G

Select item 148624638513.

rs1486246385 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:150632200 (GRCh38)
7:150329288 (GRCh37)
Canonical SPDI:: NC_000007.14:150632199:CC:C
Gene:: GIMAP6 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150632201del, NC_000007.13:g.150329289del, NM_024711.6:c.-32del, NM_024711.5:c.-32del, NM_001244072.2:c.-32del, NM_001244072.1:c.-32del, NM_001244071.2:c.-32del, NM_001244071.1:c.-32del, NR_024115.1:n.393del, NM_001007224.1:c.-48del

Select item 148615194414.

rs1486151944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150625311 (GRCh38)
7:150322399 (GRCh37)
Canonical SPDI:: NC_000007.14:150625310:T:C
Gene:: GIMAP6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000007.14:g.150625311T>C, NC_000007.13:g.150322399T>C

Select item 148538087715.

rs1485380877 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:150625750 (GRCh38)
7:150322838 (GRCh37)
Canonical SPDI:: NC_000007.14:150625749:AAAAAAA:AAAAAA,NC_000007.14:150625749:AAAAAAA:AAAAAAAA
Gene:: GIMAP6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150625756del, NC_000007.14:g.150625756dup, NC_000007.13:g.150322844del, NC_000007.13:g.150322844dup, NM_024711.6:c.*1969del, NM_024711.6:c.*1969dup, NM_024711.5:c.*1969del, NM_024711.5:c.*1969dup, NM_001244072.2:c.*1969del, NM_001244072.2:c.*1969dup, NM_001244072.1:c.*1969del, NM_001244072.1:c.*1969dup, NM_001244071.2:c.*2435del, NM_001244071.2:c.*2435dup, NM_001244071.1:c.*2435del, NM_001244071.1:c.*2435dup, NR_024115.1:n.3048del, NR_024115.1:n.3048dup, NM_001007224.1:c.*1970del, NM_001007224.1:c.*1970dup

Select item 148485515316.

rs1484855153 has merged into rs1224697108 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 7:150633511 (GRCh38)
7:150330599 (GRCh37)
Canonical SPDI:: NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:150633501:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: GIMAP6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.013333/8 (NorthernSweden)
HGVS:: NC_000007.14:g.150633511_150633517del, NC_000007.14:g.150633514_150633517del, NC_000007.14:g.150633515_150633517del, NC_000007.14:g.150633516_150633517del, NC_000007.14:g.150633517del, NC_000007.14:g.150633517dup, NC_000007.14:g.150633516_150633517dup, NC_000007.14:g.150633515_150633517dup, NC_000007.13:g.150330599_150330605del, NC_000007.13:g.150330602_150330605del, NC_000007.13:g.150330603_150330605del, NC_000007.13:g.150330604_150330605del, NC_000007.13:g.150330605del, NC_000007.13:g.150330605dup, NC_000007.13:g.150330604_150330605dup, NC_000007.13:g.150330603_150330605dup

Select item 148478554717.

rs1484785547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150624946 (GRCh38)
7:150322034 (GRCh37)
Canonical SPDI:: NC_000007.14:150624945:T:C
Gene:: GIMAP6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000007.14:g.150624946T>C, NC_000007.13:g.150322034T>C

Select item 148394449818.

rs1483944498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150625999 (GRCh38)
7:150323087 (GRCh37)
Canonical SPDI:: NC_000007.14:150625998:G:A
Gene:: GIMAP6 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.150625999G>A, NC_000007.13:g.150323087G>A, NM_024711.6:c.*1720C>T, NM_024711.5:c.*1720C>T, NM_001244072.2:c.*1720C>T, NM_001244072.1:c.*1720C>T, NM_001244071.2:c.*2186C>T, NM_001244071.1:c.*2186C>T, NR_024115.1:n.2799C>T, NM_001007224.1:c.*1721C>T

Select item 148387703819.

rs1483877038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:150633657 (GRCh38)
7:150330745 (GRCh37)
Canonical SPDI:: NC_000007.14:150633656:C:A
Gene:: GIMAP6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150633657C>A, NC_000007.13:g.150330745C>A

Select item 148379033020.

rs1483790330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:150629504 (GRCh38)
7:150326592 (GRCh37)
Canonical SPDI:: NC_000007.14:150629503:A:G
Gene:: GIMAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150629504A>G, NC_000007.13:g.150326592A>G

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