SNP Links for Gene (Select 170575) - SNP

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Select item 14914631861.

rs1491463186 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 7:150724651 (GRCh38)
7:150421740 (GRCh37)
Canonical SPDI:: NC_000007.14:150724651:C:CAC
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
CA=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150724652_150724653insAC, NC_000007.13:g.150421740_150421741insAC

Select item 14910237612.

rs1491023761 has merged into rs67058252 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 7:150721805 (GRCh38)
7:150418893 (GRCh37)
Canonical SPDI:: NC_000007.14:150721793:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:150721793:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:150721793:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:150721793:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:150721793:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1003/58 (NorthernSweden)
HGVS:: NC_000007.14:g.150721805_150721806del, NC_000007.14:g.150721806del, NC_000007.14:g.150721806dup, NC_000007.14:g.150721805_150721806dup, NC_000007.14:g.150721803_150721806dup, NC_000007.13:g.150418893_150418894del, NC_000007.13:g.150418894del, NC_000007.13:g.150418894dup, NC_000007.13:g.150418893_150418894dup, NC_000007.13:g.150418891_150418894dup, NM_130759.4:c.*880_*881del, NM_130759.4:c.*881del, NM_130759.4:c.*881dup, NM_130759.4:c.*880_*881dup, NM_130759.4:c.*878_*881dup, NM_130759.3:c.*880_*881del, NM_130759.3:c.*881del, NM_130759.3:c.*881dup, NM_130759.3:c.*880_*881dup, NM_130759.3:c.*878_*881dup

Select item 14909540853.

rs1490954085 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAC>- [Show Flanks]
Chromosome:: 7:150716381 (GRCh38)
7:150413469 (GRCh37)
Canonical SPDI:: NC_000007.14:150716378:ACTAC:AC
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.150716381_150716383del, NC_000007.13:g.150413469_150413471del

Select item 14909290074.

rs1490929007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150715396 (GRCh38)
7:150412484 (GRCh37)
Canonical SPDI:: NC_000007.14:150715395:C:T
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150715396C>T, NC_000007.13:g.150412484C>T

Select item 14904167235.

rs1490416723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:150724474 (GRCh38)
7:150421562 (GRCh37)
Canonical SPDI:: NC_000007.14:150724473:T:A
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.150724474T>A, NC_000007.13:g.150421562T>A

Select item 14902511406.

rs1490251140 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 7:150724707 (GRCh38)
7:150421795 (GRCh37)
Canonical SPDI:: NC_000007.14:150724704:AAGAA:AA
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150724707_150724709del, NC_000007.13:g.150421795_150421797del

Select item 14901116627.

rs1490111662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150720365 (GRCh38)
7:150417453 (GRCh37)
Canonical SPDI:: NC_000007.14:150720364:T:C
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150720365T>C, NC_000007.13:g.150417453T>C, NM_130759.4:c.361T>C, NM_130759.3:c.361T>C, NM_001199577.2:c.361T>C, NM_001199577.1:c.361T>C

Select item 14896824258.

rs1489682425 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14891873769.

rs1489187376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150715069 (GRCh38)
7:150412157 (GRCh37)
Canonical SPDI:: NC_000007.14:150715068:G:A
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.150715069G>A, NC_000007.13:g.150412157G>A

Select item 148906127910.

rs1489061279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:150718529 (GRCh38)
7:150415617 (GRCh37)
Canonical SPDI:: NC_000007.14:150718528:G:T
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150718529G>T, NC_000007.13:g.150415617G>T

Select item 148878867811.

rs1488788678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:150722292 (GRCh38)
7:150419380 (GRCh37)
Canonical SPDI:: NC_000007.14:150722291:C:A
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.150722292C>A, NC_000007.13:g.150419380C>A, NM_130759.4:c.*1367C>A, NM_130759.3:c.*1367C>A

Select item 148844294112.

rs1488442941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:150722767 (GRCh38)
7:150419855 (GRCh37)
Canonical SPDI:: NC_000007.14:150722766:C:A
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000192/27 (GnomAD)
HGVS:: NC_000007.14:g.150722767C>A, NC_000007.13:g.150419855C>A, NM_130759.4:c.*1842C>A, NM_130759.3:c.*1842C>A

Select item 148825574013.

rs1488255740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:150723815 (GRCh38)
7:150420903 (GRCh37)
Canonical SPDI:: NC_000007.14:150723814:C:G
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000007.14:g.150723815C>G, NC_000007.13:g.150420903C>G, NM_130759.4:c.*2890C>G, NM_130759.3:c.*2890C>G

Select item 148817604514.

rs1488176045 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:150720572 (GRCh38)
7:150417660 (GRCh37)
Canonical SPDI:: NC_000007.14:150720571:AA:A
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150720573del, NC_000007.13:g.150417661del, NM_130759.4:c.569del, NM_130759.3:c.569del, NP_570115.1:p.Asn190fs

Select item 148768901515.

rs1487689015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150716292 (GRCh38)
7:150413380 (GRCh37)
Canonical SPDI:: NC_000007.14:150716291:T:C
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150716292T>C, NC_000007.13:g.150413380T>C

Select item 148756411816.

rs1487564118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:150719385 (GRCh38)
7:150416473 (GRCh37)
Canonical SPDI:: NC_000007.14:150719384:T:G
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.150719385T>G, NC_000007.13:g.150416473T>G

Select item 148740986417.

rs1487409864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:150722762 (GRCh38)
7:150419850 (GRCh37)
Canonical SPDI:: NC_000007.14:150722761:A:G,NC_000007.14:150722761:A:T
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150722762A>G, NC_000007.14:g.150722762A>T, NC_000007.13:g.150419850A>G, NC_000007.13:g.150419850A>T, NM_130759.4:c.*1837A>G, NM_130759.4:c.*1837A>T, NM_130759.3:c.*1837A>G, NM_130759.3:c.*1837A>T

Select item 148733443318.

rs1487334433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150717352 (GRCh38)
7:150414440 (GRCh37)
Canonical SPDI:: NC_000007.14:150717351:C:T
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.150717352C>T, NC_000007.13:g.150414440C>T

Select item 148730995419.

rs1487309954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:150715278 (GRCh38)
7:150412366 (GRCh37)
Canonical SPDI:: NC_000007.14:150715277:A:C,NC_000007.14:150715277:A:G
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.150715278A>C, NC_000007.14:g.150715278A>G, NC_000007.13:g.150412366A>C, NC_000007.13:g.150412366A>G

Select item 148721053120.

rs1487210531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150715984 (GRCh38)
7:150413072 (GRCh37)
Canonical SPDI:: NC_000007.14:150715983:G:A
Gene:: GIMAP1 (Varview), GIMAP1-GIMAP5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.150715984G>A, NC_000007.13:g.150413072G>A

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