SNP Links for Protein (Select 530386905) - SNP

Links from Protein

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Select item 14903397461.

rs1490339746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:150474520 (GRCh38)
7:150171608 (GRCh37)
Canonical SPDI:: NC_000007.14:150474519:T:G
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.150474520T>G, NC_000007.13:g.150171608T>G, XM_005249950.5:c.1191T>G, XM_005249950.4:c.1191T>G, XM_005249950.3:c.1191T>G, XM_005249950.2:c.1191T>G, XM_005249950.1:c.1191T>G, NM_175571.4:c.1191T>G, NM_175571.3:c.1191T>G, NM_175571.2:c.1191T>G, XP_005250007.1:p.Ser397Arg, NP_783161.1:p.Ser397Arg

Select item 14900999242.

rs1490099924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150467013 (GRCh38)
7:150164101 (GRCh37)
Canonical SPDI:: NC_000007.14:150467012:T:C
Gene:: GIMAP8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150467013T>C, NC_000007.13:g.150164101T>C, XM_005249950.5:c.315T>C, XM_005249950.4:c.315T>C, XM_005249950.3:c.315T>C, XM_005249950.2:c.315T>C, XM_005249950.1:c.315T>C, NM_175571.4:c.315T>C, NM_175571.3:c.315T>C, NM_175571.2:c.315T>C

Select item 14891127493.

rs1489112749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:150474530 (GRCh38)
7:150171618 (GRCh37)
Canonical SPDI:: NC_000007.14:150474529:T:C,NC_000007.14:150474529:T:G
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000032/8 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
C=0.000079/21 (TOPMED)
C=0.000138/19 (GnomAD)
HGVS:: NC_000007.14:g.150474530T>C, NC_000007.14:g.150474530T>G, NC_000007.13:g.150171618T>C, NC_000007.13:g.150171618T>G, XM_005249950.5:c.1201T>C, XM_005249950.5:c.1201T>G, XM_005249950.4:c.1201T>C, XM_005249950.4:c.1201T>G, XM_005249950.3:c.1201T>C, XM_005249950.3:c.1201T>G, XM_005249950.2:c.1201T>C, XM_005249950.2:c.1201T>G, XM_005249950.1:c.1201T>C, XM_005249950.1:c.1201T>G, NM_175571.4:c.1201T>C, NM_175571.4:c.1201T>G, NM_175571.3:c.1201T>C, NM_175571.3:c.1201T>G, NM_175571.2:c.1201T>C, NM_175571.2:c.1201T>G, XP_005250007.1:p.Tyr401His, XP_005250007.1:p.Tyr401Asp, NP_783161.1:p.Tyr401His, NP_783161.1:p.Tyr401Asp

Select item 14885792954.

rs1488579295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:150467149 (GRCh38)
7:150164237 (GRCh37)
Canonical SPDI:: NC_000007.14:150467148:A:C
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.150467149A>C, NC_000007.13:g.150164237A>C, XM_005249950.5:c.451A>C, XM_005249950.4:c.451A>C, XM_005249950.3:c.451A>C, XM_005249950.2:c.451A>C, XM_005249950.1:c.451A>C, NM_175571.4:c.451A>C, NM_175571.3:c.451A>C, NM_175571.2:c.451A>C, XP_005250007.1:p.Asn151His, NP_783161.1:p.Asn151His

Select item 14882552555.

rs1488255255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:150467070 (GRCh38)
7:150164158 (GRCh37)
Canonical SPDI:: NC_000007.14:150467069:A:C
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150467070A>C, NC_000007.13:g.150164158A>C, XM_005249950.5:c.372A>C, XM_005249950.4:c.372A>C, XM_005249950.3:c.372A>C, XM_005249950.2:c.372A>C, XM_005249950.1:c.372A>C, NM_175571.4:c.372A>C, NM_175571.3:c.372A>C, NM_175571.2:c.372A>C, XP_005250007.1:p.Glu124Asp, NP_783161.1:p.Glu124Asp

Select item 14860076646.

rs1486007664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150474627 (GRCh38)
7:150171715 (GRCh37)
Canonical SPDI:: NC_000007.14:150474626:T:C
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.150474627T>C, NC_000007.13:g.150171715T>C, XM_005249950.5:c.1298T>C, XM_005249950.4:c.1298T>C, XM_005249950.3:c.1298T>C, XM_005249950.2:c.1298T>C, XM_005249950.1:c.1298T>C, NM_175571.4:c.1298T>C, NM_175571.3:c.1298T>C, NM_175571.2:c.1298T>C, XP_005250007.1:p.Phe433Ser, NP_783161.1:p.Phe433Ser

Select item 14826849577.

rs1482684957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:150467019 (GRCh38)
7:150164107 (GRCh37)
Canonical SPDI:: NC_000007.14:150467018:A:G
Gene:: GIMAP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150467019A>G, NC_000007.13:g.150164107A>G, XM_005249950.5:c.321A>G, XM_005249950.4:c.321A>G, XM_005249950.3:c.321A>G, XM_005249950.2:c.321A>G, XM_005249950.1:c.321A>G, NM_175571.4:c.321A>G, NM_175571.3:c.321A>G, NM_175571.2:c.321A>G

Select item 14825713798.

rs1482571379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:150477225 (GRCh38)
7:150174313 (GRCh37)
Canonical SPDI:: NC_000007.14:150477224:G:A,NC_000007.14:150477224:G:C
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.150477225G>A, NC_000007.14:g.150477225G>C, NC_000007.13:g.150174313G>A, NC_000007.13:g.150174313G>C, XM_005249950.5:c.1443G>A, XM_005249950.5:c.1443G>C, XM_005249950.4:c.1443G>A, XM_005249950.4:c.1443G>C, XM_005249950.3:c.1443G>A, XM_005249950.3:c.1443G>C, XM_005249950.2:c.1443G>A, XM_005249950.2:c.1443G>C, XM_005249950.1:c.1443G>A, XM_005249950.1:c.1443G>C, NM_175571.4:c.1443G>A, NM_175571.4:c.1443G>C, NM_175571.3:c.1443G>A, NM_175571.3:c.1443G>C, NM_175571.2:c.1443G>A, NM_175571.2:c.1443G>C, XP_005250007.1:p.Arg481Ser, NP_783161.1:p.Arg481Ser

Select item 14825407499.

rs1482540749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:150474213 (GRCh38)
7:150171301 (GRCh37)
Canonical SPDI:: NC_000007.14:150474212:A:G
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150474213A>G, NC_000007.13:g.150171301A>G, XM_005249950.5:c.884A>G, XM_005249950.4:c.884A>G, XM_005249950.3:c.884A>G, XM_005249950.2:c.884A>G, XM_005249950.1:c.884A>G, NM_175571.4:c.884A>G, NM_175571.3:c.884A>G, NM_175571.2:c.884A>G, XP_005250007.1:p.Lys295Arg, NP_783161.1:p.Lys295Arg

Select item 148253411110.

rs1482534111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:150477358 (GRCh38)
7:150174446 (GRCh37)
Canonical SPDI:: NC_000007.14:150477357:A:C,NC_000007.14:150477357:A:G
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150477358A>C, NC_000007.14:g.150477358A>G, NC_000007.13:g.150174446A>C, NC_000007.13:g.150174446A>G, XM_005249950.5:c.1576A>C, XM_005249950.5:c.1576A>G, XM_005249950.4:c.1576A>C, XM_005249950.4:c.1576A>G, XM_005249950.3:c.1576A>C, XM_005249950.3:c.1576A>G, XM_005249950.2:c.1576A>C, XM_005249950.2:c.1576A>G, XM_005249950.1:c.1576A>C, XM_005249950.1:c.1576A>G, NM_175571.4:c.1576A>C, NM_175571.4:c.1576A>G, NM_175571.3:c.1576A>C, NM_175571.3:c.1576A>G, NM_175571.2:c.1576A>C, NM_175571.2:c.1576A>G, XP_005250007.1:p.Thr526Pro, XP_005250007.1:p.Thr526Ala, NP_783161.1:p.Thr526Pro, NP_783161.1:p.Thr526Ala

Select item 148220546011.

rs1482205460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:150477714 (GRCh38)
7:150174802 (GRCh37)
Canonical SPDI:: NC_000007.14:150477713:T:A
Gene:: GIMAP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.150477714T>A, NC_000007.13:g.150174802T>A, XM_005249950.5:c.1932T>A, XM_005249950.4:c.1932T>A, XM_005249950.3:c.1932T>A, XM_005249950.2:c.1932T>A, XM_005249950.1:c.1932T>A, NM_175571.4:c.1932T>A, NM_175571.3:c.1932T>A, NM_175571.2:c.1932T>A

Select item 148156960112.

rs1481569601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150470871 (GRCh38)
7:150167959 (GRCh37)
Canonical SPDI:: NC_000007.14:150470870:C:T
Gene:: GIMAP8 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000007.14:g.150470871C>T, NC_000007.13:g.150167959C>T, XM_005249950.5:c.679C>T, XM_005249950.4:c.679C>T, XM_005249950.3:c.679C>T, XM_005249950.2:c.679C>T, XM_005249950.1:c.679C>T, NM_175571.4:c.679C>T, NM_175571.3:c.679C>T, NM_175571.2:c.679C>T, XP_005250007.1:p.Gln227Ter, NP_783161.1:p.Gln227Ter

Select item 148079848413.

rs1480798484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150474105 (GRCh38)
7:150171193 (GRCh37)
Canonical SPDI:: NC_000007.14:150474104:G:A
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.150474105G>A, NC_000007.13:g.150171193G>A, XM_005249950.5:c.776G>A, XM_005249950.4:c.776G>A, XM_005249950.3:c.776G>A, XM_005249950.2:c.776G>A, XM_005249950.1:c.776G>A, NM_175571.4:c.776G>A, NM_175571.3:c.776G>A, NM_175571.2:c.776G>A, XP_005250007.1:p.Gly259Glu, NP_783161.1:p.Gly259Glu

Select item 148036538014.

rs1480365380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:150474594 (GRCh38)
7:150171682 (GRCh37)
Canonical SPDI:: NC_000007.14:150474593:T:G
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150474594T>G, NC_000007.13:g.150171682T>G, XM_005249950.5:c.1265T>G, XM_005249950.4:c.1265T>G, XM_005249950.3:c.1265T>G, XM_005249950.2:c.1265T>G, XM_005249950.1:c.1265T>G, NM_175571.4:c.1265T>G, NM_175571.3:c.1265T>G, NM_175571.2:c.1265T>G, XP_005250007.1:p.Met422Arg, NP_783161.1:p.Met422Arg

Select item 148021727315.

rs1480217273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150477472 (GRCh38)
7:150174560 (GRCh37)
Canonical SPDI:: NC_000007.14:150477471:T:C
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150477472T>C, NC_000007.13:g.150174560T>C, XM_005249950.5:c.1690T>C, XM_005249950.4:c.1690T>C, XM_005249950.3:c.1690T>C, XM_005249950.2:c.1690T>C, XM_005249950.1:c.1690T>C, NM_175571.4:c.1690T>C, NM_175571.3:c.1690T>C, NM_175571.2:c.1690T>C, XP_005250007.1:p.Phe564Leu, NP_783161.1:p.Phe564Leu

Select item 147976734216.

rs1479767342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150477572 (GRCh38)
7:150174660 (GRCh37)
Canonical SPDI:: NC_000007.14:150477571:G:A
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150477572G>A, NC_000007.13:g.150174660G>A, XM_005249950.5:c.1790G>A, XM_005249950.4:c.1790G>A, XM_005249950.3:c.1790G>A, XM_005249950.2:c.1790G>A, XM_005249950.1:c.1790G>A, NM_175571.4:c.1790G>A, NM_175571.3:c.1790G>A, NM_175571.2:c.1790G>A, XP_005250007.1:p.Arg597Gln, NP_783161.1:p.Arg597Gln

Select item 147971945517.

rs1479719455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150477780 (GRCh38)
7:150174868 (GRCh37)
Canonical SPDI:: NC_000007.14:150477779:G:A
Gene:: GIMAP8 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0004/2 (ALFA)
A=0.0004/2 (Estonian)
HGVS:: NC_000007.14:g.150477780G>A, NC_000007.13:g.150174868G>A, XM_005249950.5:c.1998G>A, XM_005249950.4:c.1998G>A, XM_005249950.3:c.1998G>A, XM_005249950.2:c.1998G>A, XM_005249950.1:c.1998G>A, NM_175571.4:c.1998G>A, NM_175571.3:c.1998G>A, NM_175571.2:c.1998G>A

Select item 147895997018.

rs1478959970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:150474039 (GRCh38)
7:150171127 (GRCh37)
Canonical SPDI:: NC_000007.14:150474038:C:A,NC_000007.14:150474038:C:T
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150474039C>A, NC_000007.14:g.150474039C>T, NC_000007.13:g.150171127C>A, NC_000007.13:g.150171127C>T, XM_005249950.5:c.710C>A, XM_005249950.5:c.710C>T, XM_005249950.4:c.710C>A, XM_005249950.4:c.710C>T, XM_005249950.3:c.710C>A, XM_005249950.3:c.710C>T, XM_005249950.2:c.710C>A, XM_005249950.2:c.710C>T, XM_005249950.1:c.710C>A, XM_005249950.1:c.710C>T, NM_175571.4:c.710C>A, NM_175571.4:c.710C>T, NM_175571.3:c.710C>A, NM_175571.3:c.710C>T, NM_175571.2:c.710C>A, NM_175571.2:c.710C>T, XP_005250007.1:p.Thr237Lys, XP_005250007.1:p.Thr237Ile, NP_783161.1:p.Thr237Lys, NP_783161.1:p.Thr237Ile

Select item 147783758319.

rs1477837583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150474471 (GRCh38)
7:150171559 (GRCh37)
Canonical SPDI:: NC_000007.14:150474470:G:A
Gene:: GIMAP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150474471G>A, NC_000007.13:g.150171559G>A, XM_005249950.5:c.1142G>A, XM_005249950.4:c.1142G>A, XM_005249950.3:c.1142G>A, XM_005249950.2:c.1142G>A, XM_005249950.1:c.1142G>A, NM_175571.4:c.1142G>A, NM_175571.3:c.1142G>A, NM_175571.2:c.1142G>A, XP_005250007.1:p.Ser381Asn, NP_783161.1:p.Ser381Asn

Select item 147607217920.

rs1476072179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150467031 (GRCh38)
7:150164119 (GRCh37)
Canonical SPDI:: NC_000007.14:150467030:G:A
Gene:: GIMAP8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150467031G>A, NC_000007.13:g.150164119G>A, XM_005249950.5:c.333G>A, XM_005249950.4:c.333G>A, XM_005249950.3:c.333G>A, XM_005249950.2:c.333G>A, XM_005249950.1:c.333G>A, NM_175571.4:c.333G>A, NM_175571.3:c.333G>A, NM_175571.2:c.333G>A

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