SNP Links for Gene (Select 51604) - SNP

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Items: 1 to 20 of 3356

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Select item 14914246711.

rs1491424671 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:45423055 (GRCh38)
20:44051695 (GRCh37)
Canonical SPDI:: NC_000020.11:45423054:AT:
Gene:: PIGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000020.11:g.45423055_45423056del, NC_000020.10:g.44051695_44051696del, NG_047154.1:g.11989_11990del

Select item 14913979652.

rs1491397965 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:45415163 (GRCh38)
20:44043804 (GRCh37)
Canonical SPDI:: NC_000020.11:45415163::A
Gene:: PIGT (Varview), LOC107985405 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.45415163_45415164insA, NC_000020.10:g.44043803_44043804insA, NG_047154.1:g.4097_4098insA, XR_001754640.2:n.1824_1825insT

Select item 14911576273.

rs1491157627 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:45415163 (GRCh38)
20:44043803 (GRCh37)
Canonical SPDI:: NC_000020.11:45415162:TG:
Gene:: PIGT (Varview), LOC107985405 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/5 (ALFA)
-=0.0011/5 (Estonian)
HGVS:: NC_000020.11:g.45415163_45415164del, NC_000020.10:g.44043803_44043804del, NG_047154.1:g.4097_4098del, XR_001754640.2:n.1824_1825del

Select item 14911504794.

rs1491150479 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:45422604 (GRCh38)
20:44051244 (GRCh37)
Canonical SPDI:: NC_000020.11:45422603:AT:
Gene:: PIGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000064/9 (GnomAD)
HGVS:: NC_000020.11:g.45422604_45422605del, NC_000020.10:g.44051244_44051245del, NG_047154.1:g.11538_11539del

Select item 14910576385.

rs1491057638 has merged into rs777332291 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT [Show Flanks]
Chromosome:: 20:45425157 (GRCh38)
20:44053797 (GRCh37)
Canonical SPDI:: NC_000020.11:45425155:TTT:T,NC_000020.11:45425155:TTT:TTTT,NC_000020.11:45425155:TTT:TTTTT
Gene:: PIGT (Varview), MIR6812 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000020.11:g.45425157_45425158del, NC_000020.11:g.45425158dup, NC_000020.11:g.45425157_45425158dup, NC_000020.10:g.44053797_44053798del, NC_000020.10:g.44053798dup, NC_000020.10:g.44053797_44053798dup, NG_047154.1:g.14091_14092del, NG_047154.1:g.14092dup, NG_047154.1:g.14091_14092dup

Select item 14910117196.

rs1491011719 has merged into rs1426336111 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 20:45425199 (GRCh38)
20:44053839 (GRCh37)
Canonical SPDI:: NC_000020.11:45425197:TCT:T,NC_000020.11:45425197:TCT:TCTCT
Gene:: PIGT (Varview), MIR6812 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45425199_45425200del, NC_000020.11:g.45425199_45425200dup, NC_000020.10:g.44053839_44053840del, NC_000020.10:g.44053839_44053840dup, NG_047154.1:g.14133_14134del, NG_047154.1:g.14133_14134dup

Select item 14908478507.

rs1490847850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:45419380 (GRCh38)
20:44048020 (GRCh37)
Canonical SPDI:: NC_000020.11:45419379:G:T
Gene:: PIGT (Varview), LOC107985405 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.45419380G>T, NC_000020.10:g.44048020G>T, NG_047154.1:g.8314G>T, NM_015937.6:c.579G>T, NM_015937.5:c.579G>T, NM_001184728.3:c.411G>T, NM_001184728.2:c.411G>T, NM_001184729.3:c.579G>T, NM_001184729.2:c.579G>T, NM_001184730.3:c.273G>T, NM_001184730.2:c.273G>T, NR_047691.2:n.555G>T, NR_047691.1:n.629G>T, NR_047692.2:n.467G>T, NR_047692.1:n.541G>T, NR_047694.2:n.417G>T, NR_047694.1:n.491G>T, NP_057021.2:p.Leu193Phe, NP_001171657.1:p.Leu137Phe, NP_001171658.1:p.Leu193Phe, NP_001171659.1:p.Leu91Phe

Select item 14906727798.

rs1490672779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45418812 (GRCh38)
20:44047452 (GRCh37)
Canonical SPDI:: NC_000020.11:45418811:G:A
Gene:: PIGT (Varview), LOC107985405 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.45418812G>A, NC_000020.10:g.44047452G>A, NG_047154.1:g.7746G>A

Select item 14904741479.

rs1490474147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45421915 (GRCh38)
20:44050555 (GRCh37)
Canonical SPDI:: NC_000020.11:45421914:A:G
Gene:: PIGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45421915A>G, NC_000020.10:g.44050555A>G, NG_047154.1:g.10849A>G

Select item 149047196710.

rs1490471967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:45425637 (GRCh38)
20:44054277 (GRCh37)
Canonical SPDI:: NC_000020.11:45425636:C:G
Gene:: PIGT (Varview), MIR6812 (Varview), LOC105372631 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.45425637C>G, NC_000020.10:g.44054277C>G, NG_047154.1:g.14571C>G, NM_015937.6:c.1548C>G, NM_015937.5:c.1548C>G, NM_001184728.3:c.1380C>G, NM_001184728.2:c.1380C>G, NM_001184729.3:c.1347C>G, NM_001184729.2:c.1347C>G, NM_001184730.3:c.1242C>G, NM_001184730.2:c.1242C>G, NR_047691.2:n.1524C>G, NR_047691.1:n.1598C>G, NR_047692.2:n.1467C>G, NR_047692.1:n.1541C>G, NR_047693.2:n.1463C>G, NR_047693.1:n.1537C>G, NR_047694.2:n.1386C>G, NR_047694.1:n.1460C>G, NR_047695.2:n.1157C>G, NR_047695.1:n.1231C>G, NP_057021.2:p.Asn516Lys, NP_001171657.1:p.Asn460Lys, NP_001171658.1:p.Asn449Lys, NP_001171659.1:p.Asn414Lys

Select item 149043609511.

rs1490436095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:45426716 (GRCh38)
20:44055356 (GRCh37)
Canonical SPDI:: NC_000020.11:45426715:T:G
Gene:: PIGT (Varview), LOC105372631 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45426716T>G, NC_000020.10:g.44055356T>G, NG_047154.1:g.15650T>G

Select item 149036791312.

rs1490367913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:45424020 (GRCh38)
20:44052660 (GRCh37)
Canonical SPDI:: NC_000020.11:45424019:A:C
Gene:: PIGT (Varview), MIR6812 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45424020A>C, NC_000020.10:g.44052660A>C, NG_047154.1:g.12954A>C

Select item 149031143513.

rs1490311435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45420768 (GRCh38)
20:44049408 (GRCh37)
Canonical SPDI:: NC_000020.11:45420767:G:A
Gene:: PIGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000020.11:g.45420768G>A, NC_000020.10:g.44049408G>A, NG_047154.1:g.9702G>A

Select item 149030909514.

rs1490309095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:45426064 (GRCh38)
20:44054704 (GRCh37)
Canonical SPDI:: NC_000020.11:45426063:C:G,NC_000020.11:45426063:C:T
Gene:: PIGT (Varview), MIR6812 (Varview), LOC105372631 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.45426064C>G, NC_000020.11:g.45426064C>T, NC_000020.10:g.44054704C>G, NC_000020.10:g.44054704C>T, NG_047154.1:g.14998C>G, NG_047154.1:g.14998C>T, NM_015937.6:c.*238C>G, NM_015937.6:c.*238C>T, NM_015937.5:c.*238C>G, NM_015937.5:c.*238C>T, NM_001184728.3:c.*238C>G, NM_001184728.3:c.*238C>T, NM_001184728.2:c.*238C>G, NM_001184728.2:c.*238C>T, NM_001184729.3:c.*238C>G, NM_001184729.3:c.*238C>T, NM_001184729.2:c.*238C>G, NM_001184729.2:c.*238C>T, NM_001184730.3:c.*238C>G, NM_001184730.3:c.*238C>T, NM_001184730.2:c.*238C>G, NM_001184730.2:c.*238C>T, NR_047691.2:n.1951C>G, NR_047691.2:n.1951C>T, NR_047691.1:n.2025C>G, NR_047691.1:n.2025C>T, NR_047692.2:n.1894C>G, NR_047692.2:n.1894C>T, NR_047692.1:n.1968C>G, NR_047692.1:n.1968C>T, NR_047693.2:n.1890C>G, NR_047693.2:n.1890C>T, NR_047693.1:n.1964C>G, NR_047693.1:n.1964C>T, NR_047694.2:n.1813C>G, NR_047694.2:n.1813C>T, NR_047694.1:n.1887C>G, NR_047694.1:n.1887C>T, NR_047695.2:n.1584C>G, NR_047695.2:n.1584C>T, NR_047695.1:n.1658C>G, NR_047695.1:n.1658C>T

Select item 149010275715.

rs1490102757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45418816 (GRCh38)
20:44047456 (GRCh37)
Canonical SPDI:: NC_000020.11:45418815:C:T
Gene:: PIGT (Varview), LOC107985405 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45418816C>T, NC_000020.10:g.44047456C>T, NG_047154.1:g.7750C>T

Select item 149002880716.

rs1490028807 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:45419852 (GRCh38)
20:44048493 (GRCh37)
Canonical SPDI:: NC_000020.11:45419852:TT:TTT
Gene:: PIGT (Varview), LOC107985405 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45419854dup, NC_000020.10:g.44048494dup, NG_047154.1:g.8788dup

Select item 148994089117.

rs1489940891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45416363 (GRCh38)
20:44045003 (GRCh37)
Canonical SPDI:: NC_000020.11:45416362:C:T
Gene:: PIGT (Varview), LOC107985405 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/7 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45416363C>T, NC_000020.10:g.44045003C>T, NG_047154.1:g.5297C>T, XR_001754640.2:n.625G>A, XR_001754640.1:n.625G>A

Select item 148992276818.

rs1489922768 [Homo sapiens]

Variant type:: DEL
Alleles:: TGTT>- [Show Flanks]
Chromosome:: 20:45421273 (GRCh38)
20:44049913 (GRCh37)
Canonical SPDI:: NC_000020.11:45421272:TGTT:
Gene:: PIGT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000020.11:g.45421273_45421276del, NC_000020.10:g.44049913_44049916del, NG_047154.1:g.10207_10210del

Select item 148931560519.

rs1489315605 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:45421480 (GRCh38)
20:44050121 (GRCh37)
Canonical SPDI:: NC_000020.11:45421480:T:TT
Gene:: PIGT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000020.11:g.45421481dup, NC_000020.10:g.44050121dup, NG_047154.1:g.10415dup, NM_015937.6:c.1132dup, NM_015937.5:c.1132dup, NM_001184728.3:c.964dup, NM_001184728.2:c.964dup, NM_001184730.3:c.826dup, NM_001184730.2:c.826dup, NR_047691.2:n.1108dup, NR_047691.1:n.1182dup, NR_047692.2:n.1051dup, NR_047692.1:n.1125dup, NR_047693.2:n.1047dup, NR_047693.1:n.1121dup, NR_047694.2:n.970dup, NR_047694.1:n.1044dup, NR_047695.2:n.741dup, NR_047695.1:n.815dup, NP_057021.2:p.Tyr378fs, NP_001171657.1:p.Tyr322fs, NP_001171659.1:p.Tyr276fs

Select item 148859225820.

rs1488592258 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTCTTTCTTTCTTTCTTTCT>- [Show Flanks]
Chromosome:: 20:45425143 (GRCh38)
20:44053783 (GRCh37)
Canonical SPDI:: NC_000020.11:45425127:TCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT:TCTTTCTTTCTTTCT
Gene:: PIGT (Varview), MIR6812 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TCTTTCTTTCTTTCT=0./0 (ALFA)
HGVS:: NC_000020.11:g.45425143_45425164del, NC_000020.10:g.44053783_44053804del, NG_047154.1:g.14077_14098del

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