SNP Links for Protein (Select 94721334) - SNP

Links from Protein

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Select item 14902701971.

rs1490270197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:58851882 (GRCh38)
15:59144081 (GRCh37)
Canonical SPDI:: NC_000015.10:58851881:G:T
Gene:: MINDY2 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000015.10:g.58851882G>T, NC_000015.9:g.59144081G>T, XM_011521687.3:c.1708G>T, XM_011521687.2:c.1708G>T, XM_011521687.1:c.1708G>T, XM_011521688.3:c.1708G>T, XM_011521688.2:c.1708G>T, XM_011521688.1:c.1708G>T, NM_001040450.3:c.1654G>T, NM_001040450.2:c.1654G>T, NM_001040450.1:c.1654G>T, NM_001040453.3:c.1654G>T, NM_001040453.2:c.1654G>T, NM_001040453.1:c.1654G>T, XM_011521689.3:c.1606G>T, XM_011521689.2:c.1606G>T, XM_011521689.1:c.1606G>T, XM_011521690.3:c.1552G>T, XM_011521690.2:c.1552G>T, XM_011521690.1:c.1552G>T, XM_017022332.3:c.1462G>T, XM_017022332.2:c.1462G>T, XM_017022332.1:c.1462G>T, XM_017022333.3:c.1408G>T, XM_017022333.2:c.1408G>T, XM_017022333.1:c.1408G>T, XM_017022334.3:c.1408G>T, XM_017022334.2:c.1408G>T, XM_017022334.1:c.1408G>T, XM_024449964.2:c.1552G>T, XM_024449964.1:c.1552G>T, XM_047432699.1:c.1606G>T, XM_047432700.1:c.1462G>T, NM_019092.1:c.*416G>T, XP_011519989.1:p.Glu570Ter, XP_011519990.1:p.Glu570Ter, NP_001035540.1:p.Glu552Ter, NP_001035543.1:p.Glu552Ter, XP_011519991.1:p.Glu536Ter, XP_011519992.1:p.Glu518Ter, XP_016877821.1:p.Glu488Ter, XP_016877822.1:p.Glu470Ter, XP_016877823.1:p.Glu470Ter, XP_024305732.1:p.Glu518Ter, XP_047288655.1:p.Glu536Ter, XP_047288656.1:p.Glu488Ter

Select item 14891658052.

rs1489165805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:58821755 (GRCh38)
15:59113954 (GRCh37)
Canonical SPDI:: NC_000015.10:58821754:C:T
Gene:: MINDY2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.58821755C>T, NC_000015.9:g.59113954C>T, XM_011521687.3:c.1215C>T, XM_011521687.2:c.1215C>T, XM_011521687.1:c.1215C>T, XM_011521688.3:c.1215C>T, XM_011521688.2:c.1215C>T, XM_011521688.1:c.1215C>T, NM_001040450.3:c.1161C>T, NM_001040450.2:c.1161C>T, NM_001040450.1:c.1161C>T, NM_001040453.3:c.1161C>T, NM_001040453.2:c.1161C>T, NM_001040453.1:c.1161C>T, XM_011521689.3:c.1113C>T, XM_011521689.2:c.1113C>T, XM_011521689.1:c.1113C>T, XM_011521690.3:c.1059C>T, XM_011521690.2:c.1059C>T, XM_011521690.1:c.1059C>T, XM_024449964.2:c.1059C>T, XM_024449964.1:c.1059C>T, XM_047432699.1:c.1113C>T, NM_019092.1:c.1059C>T

Select item 14889529263.

rs1488952926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:58847298 (GRCh38)
15:59139497 (GRCh37)
Canonical SPDI:: NC_000015.10:58847297:G:A
Gene:: MINDY2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.58847298G>A, NC_000015.9:g.59139497G>A, XM_011521687.3:c.1424G>A, XM_011521687.2:c.1424G>A, XM_011521687.1:c.1424G>A, XM_011521688.3:c.1424G>A, XM_011521688.2:c.1424G>A, XM_011521688.1:c.1424G>A, NM_001040450.3:c.1370G>A, NM_001040450.2:c.1370G>A, NM_001040450.1:c.1370G>A, NM_001040453.3:c.1370G>A, NM_001040453.2:c.1370G>A, NM_001040453.1:c.1370G>A, XM_011521689.3:c.1322G>A, XM_011521689.2:c.1322G>A, XM_011521689.1:c.1322G>A, XM_011521690.3:c.1268G>A, XM_011521690.2:c.1268G>A, XM_011521690.1:c.1268G>A, XM_017022332.3:c.1178G>A, XM_017022332.2:c.1178G>A, XM_017022332.1:c.1178G>A, XM_017022333.3:c.1124G>A, XM_017022333.2:c.1124G>A, XM_017022333.1:c.1124G>A, XM_017022334.3:c.1124G>A, XM_017022334.2:c.1124G>A, XM_017022334.1:c.1124G>A, XM_024449964.2:c.1268G>A, XM_024449964.1:c.1268G>A, XM_047432699.1:c.1322G>A, XM_047432700.1:c.1178G>A, NM_019092.1:c.*132G>A, XP_011519989.1:p.Gly475Asp, XP_011519990.1:p.Gly475Asp, NP_001035540.1:p.Gly457Asp, NP_001035543.1:p.Gly457Asp, XP_011519991.1:p.Gly441Asp, XP_011519992.1:p.Gly423Asp, XP_016877821.1:p.Gly393Asp, XP_016877822.1:p.Gly375Asp, XP_016877823.1:p.Gly375Asp, XP_024305732.1:p.Gly423Asp, XP_047288655.1:p.Gly441Asp, XP_047288656.1:p.Gly393Asp

Select item 14881656474.

rs1488165647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:58771691 (GRCh38)
15:59063890 (GRCh37)
Canonical SPDI:: NC_000015.10:58771690:A:T
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.58771691A>T, NC_000015.9:g.59063890A>T, XM_011521687.3:c.296A>T, XM_011521687.2:c.296A>T, XM_011521687.1:c.296A>T, XM_011521688.3:c.296A>T, XM_011521688.2:c.296A>T, XM_011521688.1:c.296A>T, NM_001040450.3:c.296A>T, NM_001040450.2:c.296A>T, NM_001040450.1:c.296A>T, NM_001040453.3:c.296A>T, NM_001040453.2:c.296A>T, NM_001040453.1:c.296A>T, XM_011521689.3:c.296A>T, XM_011521689.2:c.296A>T, XM_011521689.1:c.296A>T, XM_011521690.3:c.296A>T, XM_011521690.2:c.296A>T, XM_011521690.1:c.296A>T, XM_017022332.3:c.296A>T, XM_017022332.2:c.296A>T, XM_017022332.1:c.296A>T, XM_017022333.3:c.296A>T, XM_017022333.2:c.296A>T, XM_017022333.1:c.296A>T, XM_017022334.3:c.296A>T, XM_017022334.2:c.296A>T, XM_017022334.1:c.296A>T, XM_017022335.3:c.296A>T, XM_017022335.2:c.296A>T, XM_017022335.1:c.296A>T, XM_024449964.2:c.296A>T, XM_024449964.1:c.296A>T, XM_047432699.1:c.296A>T, XM_047432700.1:c.296A>T, NM_019092.1:c.296A>T, XP_011519989.1:p.Glu99Val, XP_011519990.1:p.Glu99Val, NP_001035540.1:p.Glu99Val, NP_001035543.1:p.Glu99Val, XP_011519991.1:p.Glu99Val, XP_011519992.1:p.Glu99Val, XP_016877821.1:p.Glu99Val, XP_016877822.1:p.Glu99Val, XP_016877823.1:p.Glu99Val, XP_016877824.1:p.Glu99Val, XP_024305732.1:p.Glu99Val, XP_047288655.1:p.Glu99Val, XP_047288656.1:p.Glu99Val

Select item 14877485765.

rs1487748576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:58854559 (GRCh38)
15:59146758 (GRCh37)
Canonical SPDI:: NC_000015.10:58854558:A:C
Gene:: MINDY2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.58854559A>C, NC_000015.9:g.59146758A>C, XM_011521687.3:c.1869A>C, XM_011521687.2:c.1869A>C, XM_011521687.1:c.1869A>C, XM_011521688.3:c.1866A>C, XM_011521688.2:c.1866A>C, XM_011521688.1:c.1866A>C, NM_001040450.3:c.1815A>C, NM_001040450.2:c.1815A>C, NM_001040450.1:c.1815A>C, NM_001040453.3:c.1812A>C, NM_001040453.2:c.1812A>C, NM_001040453.1:c.1812A>C, XM_011521689.3:c.1767A>C, XM_011521689.2:c.1767A>C, XM_011521689.1:c.1767A>C, XM_011521690.3:c.1713A>C, XM_011521690.2:c.1713A>C, XM_011521690.1:c.1713A>C, XM_017022332.3:c.1623A>C, XM_017022332.2:c.1623A>C, XM_017022332.1:c.1623A>C, XM_017022333.3:c.1569A>C, XM_017022333.2:c.1569A>C, XM_017022333.1:c.1569A>C, XM_017022334.3:c.1566A>C, XM_017022334.2:c.1566A>C, XM_017022334.1:c.1566A>C, XM_024449964.2:c.1710A>C, XM_024449964.1:c.1710A>C, XM_047432699.1:c.1764A>C, XM_047432700.1:c.1620A>C, NM_019092.1:c.*577A>C

Select item 14872215176.

rs1487221517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:58802356 (GRCh38)
15:59094555 (GRCh37)
Canonical SPDI:: NC_000015.10:58802355:T:C
Gene:: MINDY2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.58802356T>C, NC_000015.9:g.59094555T>C, XM_011521687.3:c.942T>C, XM_011521687.2:c.942T>C, XM_011521687.1:c.942T>C, XM_011521688.3:c.942T>C, XM_011521688.2:c.942T>C, XM_011521688.1:c.942T>C, NM_001040450.3:c.942T>C, NM_001040450.2:c.942T>C, NM_001040450.1:c.942T>C, NM_001040453.3:c.942T>C, NM_001040453.2:c.942T>C, NM_001040453.1:c.942T>C, XM_011521689.3:c.942T>C, XM_011521689.2:c.942T>C, XM_011521689.1:c.942T>C, XM_011521690.3:c.942T>C, XM_011521690.2:c.942T>C, XM_011521690.1:c.942T>C, XM_017022332.3:c.942T>C, XM_017022332.2:c.942T>C, XM_017022332.1:c.942T>C, XM_017022333.3:c.942T>C, XM_017022333.2:c.942T>C, XM_017022333.1:c.942T>C, XM_017022334.3:c.942T>C, XM_017022334.2:c.942T>C, XM_017022334.1:c.942T>C, XM_017022335.3:c.942T>C, XM_017022335.2:c.942T>C, XM_017022335.1:c.942T>C, XM_024449964.2:c.942T>C, XM_024449964.1:c.942T>C, XM_047432699.1:c.942T>C, XM_047432700.1:c.942T>C, NM_019092.1:c.942T>C

Select item 14855323487.

rs1485532348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:58854531 (GRCh38)
15:59146730 (GRCh37)
Canonical SPDI:: NC_000015.10:58854530:A:C
Gene:: MINDY2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.58854531A>C, NC_000015.9:g.59146730A>C, XM_011521687.3:c.1841A>C, XM_011521687.2:c.1841A>C, XM_011521687.1:c.1841A>C, XM_011521688.3:c.1838A>C, XM_011521688.2:c.1838A>C, XM_011521688.1:c.1838A>C, NM_001040450.3:c.1787A>C, NM_001040450.2:c.1787A>C, NM_001040450.1:c.1787A>C, NM_001040453.3:c.1784A>C, NM_001040453.2:c.1784A>C, NM_001040453.1:c.1784A>C, XM_011521689.3:c.1739A>C, XM_011521689.2:c.1739A>C, XM_011521689.1:c.1739A>C, XM_011521690.3:c.1685A>C, XM_011521690.2:c.1685A>C, XM_011521690.1:c.1685A>C, XM_017022332.3:c.1595A>C, XM_017022332.2:c.1595A>C, XM_017022332.1:c.1595A>C, XM_017022333.3:c.1541A>C, XM_017022333.2:c.1541A>C, XM_017022333.1:c.1541A>C, XM_017022334.3:c.1538A>C, XM_017022334.2:c.1538A>C, XM_017022334.1:c.1538A>C, XM_024449964.2:c.1682A>C, XM_024449964.1:c.1682A>C, XM_047432699.1:c.1736A>C, XM_047432700.1:c.1592A>C, NM_019092.1:c.*549A>C, XP_011519989.1:p.Asn614Thr, XP_011519990.1:p.Asn613Thr, NP_001035540.1:p.Asn596Thr, NP_001035543.1:p.Asn595Thr, XP_011519991.1:p.Asn580Thr, XP_011519992.1:p.Asn562Thr, XP_016877821.1:p.Asn532Thr, XP_016877822.1:p.Asn514Thr, XP_016877823.1:p.Asn513Thr, XP_024305732.1:p.Asn561Thr, XP_047288655.1:p.Asn579Thr, XP_047288656.1:p.Asn531Thr

Select item 14851303598.

rs1485130359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:58771762 (GRCh38)
15:59063961 (GRCh37)
Canonical SPDI:: NC_000015.10:58771761:T:C
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.58771762T>C, NC_000015.9:g.59063961T>C, XM_011521687.3:c.367T>C, XM_011521687.2:c.367T>C, XM_011521687.1:c.367T>C, XM_011521688.3:c.367T>C, XM_011521688.2:c.367T>C, XM_011521688.1:c.367T>C, NM_001040450.3:c.367T>C, NM_001040450.2:c.367T>C, NM_001040450.1:c.367T>C, NM_001040453.3:c.367T>C, NM_001040453.2:c.367T>C, NM_001040453.1:c.367T>C, XM_011521689.3:c.367T>C, XM_011521689.2:c.367T>C, XM_011521689.1:c.367T>C, XM_011521690.3:c.367T>C, XM_011521690.2:c.367T>C, XM_011521690.1:c.367T>C, XM_017022332.3:c.367T>C, XM_017022332.2:c.367T>C, XM_017022332.1:c.367T>C, XM_017022333.3:c.367T>C, XM_017022333.2:c.367T>C, XM_017022333.1:c.367T>C, XM_017022334.3:c.367T>C, XM_017022334.2:c.367T>C, XM_017022334.1:c.367T>C, XM_017022335.3:c.367T>C, XM_017022335.2:c.367T>C, XM_017022335.1:c.367T>C, XM_024449964.2:c.367T>C, XM_024449964.1:c.367T>C, XM_047432699.1:c.367T>C, XM_047432700.1:c.367T>C, NM_019092.1:c.367T>C

Select item 14849416329.

rs1484941632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:58771466 (GRCh38)
15:59063665 (GRCh37)
Canonical SPDI:: NC_000015.10:58771465:G:C
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.58771466G>C, NC_000015.9:g.59063665G>C, XM_011521687.3:c.71G>C, XM_011521687.2:c.71G>C, XM_011521687.1:c.71G>C, XM_011521688.3:c.71G>C, XM_011521688.2:c.71G>C, XM_011521688.1:c.71G>C, NM_001040450.3:c.71G>C, NM_001040450.2:c.71G>C, NM_001040450.1:c.71G>C, NM_001040453.3:c.71G>C, NM_001040453.2:c.71G>C, NM_001040453.1:c.71G>C, XM_011521689.3:c.71G>C, XM_011521689.2:c.71G>C, XM_011521689.1:c.71G>C, XM_011521690.3:c.71G>C, XM_011521690.2:c.71G>C, XM_011521690.1:c.71G>C, XM_017022332.3:c.71G>C, XM_017022332.2:c.71G>C, XM_017022332.1:c.71G>C, XM_017022333.3:c.71G>C, XM_017022333.2:c.71G>C, XM_017022333.1:c.71G>C, XM_017022334.3:c.71G>C, XM_017022334.2:c.71G>C, XM_017022334.1:c.71G>C, XM_017022335.3:c.71G>C, XM_017022335.2:c.71G>C, XM_017022335.1:c.71G>C, XM_024449964.2:c.71G>C, XM_024449964.1:c.71G>C, XM_047432699.1:c.71G>C, XM_047432700.1:c.71G>C, NM_019092.1:c.71G>C, XP_011519989.1:p.Gly24Ala, XP_011519990.1:p.Gly24Ala, NP_001035540.1:p.Gly24Ala, NP_001035543.1:p.Gly24Ala, XP_011519991.1:p.Gly24Ala, XP_011519992.1:p.Gly24Ala, XP_016877821.1:p.Gly24Ala, XP_016877822.1:p.Gly24Ala, XP_016877823.1:p.Gly24Ala, XP_016877824.1:p.Gly24Ala, XP_024305732.1:p.Gly24Ala, XP_047288655.1:p.Gly24Ala, XP_047288656.1:p.Gly24Ala

Select item 148472050510.

rs1484720505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:58847414 (GRCh38)
15:59139613 (GRCh37)
Canonical SPDI:: NC_000015.10:58847413:C:T
Gene:: MINDY2 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.58847414C>T, NC_000015.9:g.59139613C>T, XM_011521687.3:c.1540C>T, XM_011521687.2:c.1540C>T, XM_011521687.1:c.1540C>T, XM_011521688.3:c.1540C>T, XM_011521688.2:c.1540C>T, XM_011521688.1:c.1540C>T, NM_001040450.3:c.1486C>T, NM_001040450.2:c.1486C>T, NM_001040450.1:c.1486C>T, NM_001040453.3:c.1486C>T, NM_001040453.2:c.1486C>T, NM_001040453.1:c.1486C>T, XM_011521689.3:c.1438C>T, XM_011521689.2:c.1438C>T, XM_011521689.1:c.1438C>T, XM_011521690.3:c.1384C>T, XM_011521690.2:c.1384C>T, XM_011521690.1:c.1384C>T, XM_017022332.3:c.1294C>T, XM_017022332.2:c.1294C>T, XM_017022332.1:c.1294C>T, XM_017022333.3:c.1240C>T, XM_017022333.2:c.1240C>T, XM_017022333.1:c.1240C>T, XM_017022334.3:c.1240C>T, XM_017022334.2:c.1240C>T, XM_017022334.1:c.1240C>T, XM_024449964.2:c.1384C>T, XM_024449964.1:c.1384C>T, XM_047432699.1:c.1438C>T, XM_047432700.1:c.1294C>T, NM_019092.1:c.*248C>T, XP_011519989.1:p.Arg514Ter, XP_011519990.1:p.Arg514Ter, NP_001035540.1:p.Arg496Ter, NP_001035543.1:p.Arg496Ter, XP_011519991.1:p.Arg480Ter, XP_011519992.1:p.Arg462Ter, XP_016877821.1:p.Arg432Ter, XP_016877822.1:p.Arg414Ter, XP_016877823.1:p.Arg414Ter, XP_024305732.1:p.Arg462Ter, XP_047288655.1:p.Arg480Ter, XP_047288656.1:p.Arg432Ter

Select item 148387862811.

rs1483878628 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:58847325 (GRCh38)
15:59139524 (GRCh37)
Canonical SPDI:: NC_000015.10:58847324:A:
Gene:: MINDY2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.58847325del, NC_000015.9:g.59139524del, XM_011521687.3:c.1451del, XM_011521687.2:c.1451del, XM_011521687.1:c.1451del, XM_011521688.3:c.1451del, XM_011521688.2:c.1451del, XM_011521688.1:c.1451del, NM_001040450.3:c.1397del, NM_001040450.2:c.1397del, NM_001040450.1:c.1397del, NM_001040453.3:c.1397del, NM_001040453.2:c.1397del, NM_001040453.1:c.1397del, XM_011521689.3:c.1349del, XM_011521689.2:c.1349del, XM_011521689.1:c.1349del, XM_011521690.3:c.1295del, XM_011521690.2:c.1295del, XM_011521690.1:c.1295del, XM_017022332.3:c.1205del, XM_017022332.2:c.1205del, XM_017022332.1:c.1205del, XM_017022333.3:c.1151del, XM_017022333.2:c.1151del, XM_017022333.1:c.1151del, XM_017022334.3:c.1151del, XM_017022334.2:c.1151del, XM_017022334.1:c.1151del, XM_024449964.2:c.1295del, XM_024449964.1:c.1295del, XM_047432699.1:c.1349del, XM_047432700.1:c.1205del, NM_019092.1:c.*159del, XP_011519989.1:p.Gln484fs, XP_011519990.1:p.Gln484fs, NP_001035540.1:p.Gln466fs, NP_001035543.1:p.Gln466fs, XP_011519991.1:p.Gln450fs, XP_011519992.1:p.Gln432fs, XP_016877821.1:p.Gln402fs, XP_016877822.1:p.Gln384fs, XP_016877823.1:p.Gln384fs, XP_024305732.1:p.Gln432fs, XP_047288655.1:p.Gln450fs, XP_047288656.1:p.Gln402fs

Select item 148345902312.

rs1483459023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:58771528 (GRCh38)
15:59063727 (GRCh37)
Canonical SPDI:: NC_000015.10:58771527:G:A,NC_000015.10:58771527:G:T
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.58771528G>A, NC_000015.10:g.58771528G>T, NC_000015.9:g.59063727G>A, NC_000015.9:g.59063727G>T, XM_011521687.3:c.133G>A, XM_011521687.3:c.133G>T, XM_011521687.2:c.133G>A, XM_011521687.2:c.133G>T, XM_011521687.1:c.133G>A, XM_011521687.1:c.133G>T, XM_011521688.3:c.133G>A, XM_011521688.3:c.133G>T, XM_011521688.2:c.133G>A, XM_011521688.2:c.133G>T, XM_011521688.1:c.133G>A, XM_011521688.1:c.133G>T, NM_001040450.3:c.133G>A, NM_001040450.3:c.133G>T, NM_001040450.2:c.133G>A, NM_001040450.2:c.133G>T, NM_001040450.1:c.133G>A, NM_001040450.1:c.133G>T, NM_001040453.3:c.133G>A, NM_001040453.3:c.133G>T, NM_001040453.2:c.133G>A, NM_001040453.2:c.133G>T, NM_001040453.1:c.133G>A, NM_001040453.1:c.133G>T, XM_011521689.3:c.133G>A, XM_011521689.3:c.133G>T, XM_011521689.2:c.133G>A, XM_011521689.2:c.133G>T, XM_011521689.1:c.133G>A, XM_011521689.1:c.133G>T, XM_011521690.3:c.133G>A, XM_011521690.3:c.133G>T, XM_011521690.2:c.133G>A, XM_011521690.2:c.133G>T, XM_011521690.1:c.133G>A, XM_011521690.1:c.133G>T, XM_017022332.3:c.133G>A, XM_017022332.3:c.133G>T, XM_017022332.2:c.133G>A, XM_017022332.2:c.133G>T, XM_017022332.1:c.133G>A, XM_017022332.1:c.133G>T, XM_017022333.3:c.133G>A, XM_017022333.3:c.133G>T, XM_017022333.2:c.133G>A, XM_017022333.2:c.133G>T, XM_017022333.1:c.133G>A, XM_017022333.1:c.133G>T, XM_017022334.3:c.133G>A, XM_017022334.3:c.133G>T, XM_017022334.2:c.133G>A, XM_017022334.2:c.133G>T, XM_017022334.1:c.133G>A, XM_017022334.1:c.133G>T, XM_017022335.3:c.133G>A, XM_017022335.3:c.133G>T, XM_017022335.2:c.133G>A, XM_017022335.2:c.133G>T, XM_017022335.1:c.133G>A, XM_017022335.1:c.133G>T, XM_024449964.2:c.133G>A, XM_024449964.2:c.133G>T, XM_024449964.1:c.133G>A, XM_024449964.1:c.133G>T, XM_047432699.1:c.133G>A, XM_047432699.1:c.133G>T, XM_047432700.1:c.133G>A, XM_047432700.1:c.133G>T, NM_019092.1:c.133G>A, NM_019092.1:c.133G>T, XP_011519989.1:p.Ala45Thr, XP_011519989.1:p.Ala45Ser, XP_011519990.1:p.Ala45Thr, XP_011519990.1:p.Ala45Ser, NP_001035540.1:p.Ala45Thr, NP_001035540.1:p.Ala45Ser, NP_001035543.1:p.Ala45Thr, NP_001035543.1:p.Ala45Ser, XP_011519991.1:p.Ala45Thr, XP_011519991.1:p.Ala45Ser, XP_011519992.1:p.Ala45Thr, XP_011519992.1:p.Ala45Ser, XP_016877821.1:p.Ala45Thr, XP_016877821.1:p.Ala45Ser, XP_016877822.1:p.Ala45Thr, XP_016877822.1:p.Ala45Ser, XP_016877823.1:p.Ala45Thr, XP_016877823.1:p.Ala45Ser, XP_016877824.1:p.Ala45Thr, XP_016877824.1:p.Ala45Ser, XP_024305732.1:p.Ala45Thr, XP_024305732.1:p.Ala45Ser, XP_047288655.1:p.Ala45Thr, XP_047288655.1:p.Ala45Ser, XP_047288656.1:p.Ala45Thr, XP_047288656.1:p.Ala45Ser

Select item 148118250513.

rs1481182505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:58851956 (GRCh38)
15:59144155 (GRCh37)
Canonical SPDI:: NC_000015.10:58851955:A:G
Gene:: MINDY2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.58851956A>G, NC_000015.9:g.59144155A>G, XM_011521687.3:c.1782A>G, XM_011521687.2:c.1782A>G, XM_011521687.1:c.1782A>G, XM_011521688.3:c.1782A>G, XM_011521688.2:c.1782A>G, XM_011521688.1:c.1782A>G, NM_001040450.3:c.1728A>G, NM_001040450.2:c.1728A>G, NM_001040450.1:c.1728A>G, NM_001040453.3:c.1728A>G, NM_001040453.2:c.1728A>G, NM_001040453.1:c.1728A>G, XM_011521689.3:c.1680A>G, XM_011521689.2:c.1680A>G, XM_011521689.1:c.1680A>G, XM_011521690.3:c.1626A>G, XM_011521690.2:c.1626A>G, XM_011521690.1:c.1626A>G, XM_017022332.3:c.1536A>G, XM_017022332.2:c.1536A>G, XM_017022332.1:c.1536A>G, XM_017022333.3:c.1482A>G, XM_017022333.2:c.1482A>G, XM_017022333.1:c.1482A>G, XM_017022334.3:c.1482A>G, XM_017022334.2:c.1482A>G, XM_017022334.1:c.1482A>G, XM_024449964.2:c.1626A>G, XM_024449964.1:c.1626A>G, XM_047432699.1:c.1680A>G, XM_047432700.1:c.1536A>G, NM_019092.1:c.*490A>G

Select item 147554235314.

rs1475542353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:58772112 (GRCh38)
15:59064311 (GRCh37)
Canonical SPDI:: NC_000015.10:58772111:A:G
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.58772112A>G, NC_000015.9:g.59064311A>G, XM_011521687.3:c.717A>G, XM_011521687.2:c.717A>G, XM_011521687.1:c.717A>G, XM_011521688.3:c.717A>G, XM_011521688.2:c.717A>G, XM_011521688.1:c.717A>G, NM_001040450.3:c.717A>G, NM_001040450.2:c.717A>G, NM_001040450.1:c.717A>G, NM_001040453.3:c.717A>G, NM_001040453.2:c.717A>G, NM_001040453.1:c.717A>G, XM_011521689.3:c.717A>G, XM_011521689.2:c.717A>G, XM_011521689.1:c.717A>G, XM_011521690.3:c.717A>G, XM_011521690.2:c.717A>G, XM_011521690.1:c.717A>G, XM_017022332.3:c.717A>G, XM_017022332.2:c.717A>G, XM_017022332.1:c.717A>G, XM_017022333.3:c.717A>G, XM_017022333.2:c.717A>G, XM_017022333.1:c.717A>G, XM_017022334.3:c.717A>G, XM_017022334.2:c.717A>G, XM_017022334.1:c.717A>G, XM_017022335.3:c.717A>G, XM_017022335.2:c.717A>G, XM_017022335.1:c.717A>G, XM_024449964.2:c.717A>G, XM_024449964.1:c.717A>G, XM_047432699.1:c.717A>G, XM_047432700.1:c.717A>G, NM_019092.1:c.717A>G

Select item 147455066215.

rs1474550662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:58771417 (GRCh38)
15:59063616 (GRCh37)
Canonical SPDI:: NC_000015.10:58771416:C:G,NC_000015.10:58771416:C:T
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000015.10:g.58771417C>G, NC_000015.10:g.58771417C>T, NC_000015.9:g.59063616C>G, NC_000015.9:g.59063616C>T, XM_011521687.3:c.22C>G, XM_011521687.3:c.22C>T, XM_011521687.2:c.22C>G, XM_011521687.2:c.22C>T, XM_011521687.1:c.22C>G, XM_011521687.1:c.22C>T, XM_011521688.3:c.22C>G, XM_011521688.3:c.22C>T, XM_011521688.2:c.22C>G, XM_011521688.2:c.22C>T, XM_011521688.1:c.22C>G, XM_011521688.1:c.22C>T, NM_001040450.3:c.22C>G, NM_001040450.3:c.22C>T, NM_001040450.2:c.22C>G, NM_001040450.2:c.22C>T, NM_001040450.1:c.22C>G, NM_001040450.1:c.22C>T, NM_001040453.3:c.22C>G, NM_001040453.3:c.22C>T, NM_001040453.2:c.22C>G, NM_001040453.2:c.22C>T, NM_001040453.1:c.22C>G, NM_001040453.1:c.22C>T, XM_011521689.3:c.22C>G, XM_011521689.3:c.22C>T, XM_011521689.2:c.22C>G, XM_011521689.2:c.22C>T, XM_011521689.1:c.22C>G, XM_011521689.1:c.22C>T, XM_011521690.3:c.22C>G, XM_011521690.3:c.22C>T, XM_011521690.2:c.22C>G, XM_011521690.2:c.22C>T, XM_011521690.1:c.22C>G, XM_011521690.1:c.22C>T, XM_017022332.3:c.22C>G, XM_017022332.3:c.22C>T, XM_017022332.2:c.22C>G, XM_017022332.2:c.22C>T, XM_017022332.1:c.22C>G, XM_017022332.1:c.22C>T, XM_017022333.3:c.22C>G, XM_017022333.3:c.22C>T, XM_017022333.2:c.22C>G, XM_017022333.2:c.22C>T, XM_017022333.1:c.22C>G, XM_017022333.1:c.22C>T, XM_017022334.3:c.22C>G, XM_017022334.3:c.22C>T, XM_017022334.2:c.22C>G, XM_017022334.2:c.22C>T, XM_017022334.1:c.22C>G, XM_017022334.1:c.22C>T, XM_017022335.3:c.22C>G, XM_017022335.3:c.22C>T, XM_017022335.2:c.22C>G, XM_017022335.2:c.22C>T, XM_017022335.1:c.22C>G, XM_017022335.1:c.22C>T, XM_024449964.2:c.22C>G, XM_024449964.2:c.22C>T, XM_024449964.1:c.22C>G, XM_024449964.1:c.22C>T, XM_047432699.1:c.22C>G, XM_047432699.1:c.22C>T, XM_047432700.1:c.22C>G, XM_047432700.1:c.22C>T, NM_019092.1:c.22C>G, NM_019092.1:c.22C>T, XP_011519989.1:p.Leu8Val, XP_011519990.1:p.Leu8Val, NP_001035540.1:p.Leu8Val, NP_001035543.1:p.Leu8Val, XP_011519991.1:p.Leu8Val, XP_011519992.1:p.Leu8Val, XP_016877821.1:p.Leu8Val, XP_016877822.1:p.Leu8Val, XP_016877823.1:p.Leu8Val, XP_016877824.1:p.Leu8Val, XP_024305732.1:p.Leu8Val, XP_047288655.1:p.Leu8Val, XP_047288656.1:p.Leu8Val

Select item 147344552316.

rs1473445523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:58802320 (GRCh38)
15:59094519 (GRCh37)
Canonical SPDI:: NC_000015.10:58802319:C:T
Gene:: MINDY2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.58802320C>T, NC_000015.9:g.59094519C>T, XM_011521687.3:c.906C>T, XM_011521687.2:c.906C>T, XM_011521687.1:c.906C>T, XM_011521688.3:c.906C>T, XM_011521688.2:c.906C>T, XM_011521688.1:c.906C>T, NM_001040450.3:c.906C>T, NM_001040450.2:c.906C>T, NM_001040450.1:c.906C>T, NM_001040453.3:c.906C>T, NM_001040453.2:c.906C>T, NM_001040453.1:c.906C>T, XM_011521689.3:c.906C>T, XM_011521689.2:c.906C>T, XM_011521689.1:c.906C>T, XM_011521690.3:c.906C>T, XM_011521690.2:c.906C>T, XM_011521690.1:c.906C>T, XM_017022332.3:c.906C>T, XM_017022332.2:c.906C>T, XM_017022332.1:c.906C>T, XM_017022333.3:c.906C>T, XM_017022333.2:c.906C>T, XM_017022333.1:c.906C>T, XM_017022334.3:c.906C>T, XM_017022334.2:c.906C>T, XM_017022334.1:c.906C>T, XM_017022335.3:c.906C>T, XM_017022335.2:c.906C>T, XM_017022335.1:c.906C>T, XM_024449964.2:c.906C>T, XM_024449964.1:c.906C>T, XM_047432699.1:c.906C>T, XM_047432700.1:c.906C>T, NM_019092.1:c.906C>T

Select item 147325781817.

rs1473257818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:58772150 (GRCh38)
15:59064349 (GRCh37)
Canonical SPDI:: NC_000015.10:58772149:A:G,NC_000015.10:58772149:A:T
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
G=0.003275/6 (Korea1K)
HGVS:: NC_000015.10:g.58772150A>G, NC_000015.10:g.58772150A>T, NC_000015.9:g.59064349A>G, NC_000015.9:g.59064349A>T, XM_011521687.3:c.755A>G, XM_011521687.3:c.755A>T, XM_011521687.2:c.755A>G, XM_011521687.2:c.755A>T, XM_011521687.1:c.755A>G, XM_011521687.1:c.755A>T, XM_011521688.3:c.755A>G, XM_011521688.3:c.755A>T, XM_011521688.2:c.755A>G, XM_011521688.2:c.755A>T, XM_011521688.1:c.755A>G, XM_011521688.1:c.755A>T, NM_001040450.3:c.755A>G, NM_001040450.3:c.755A>T, NM_001040450.2:c.755A>G, NM_001040450.2:c.755A>T, NM_001040450.1:c.755A>G, NM_001040450.1:c.755A>T, NM_001040453.3:c.755A>G, NM_001040453.3:c.755A>T, NM_001040453.2:c.755A>G, NM_001040453.2:c.755A>T, NM_001040453.1:c.755A>G, NM_001040453.1:c.755A>T, XM_011521689.3:c.755A>G, XM_011521689.3:c.755A>T, XM_011521689.2:c.755A>G, XM_011521689.2:c.755A>T, XM_011521689.1:c.755A>G, XM_011521689.1:c.755A>T, XM_011521690.3:c.755A>G, XM_011521690.3:c.755A>T, XM_011521690.2:c.755A>G, XM_011521690.2:c.755A>T, XM_011521690.1:c.755A>G, XM_011521690.1:c.755A>T, XM_017022332.3:c.755A>G, XM_017022332.3:c.755A>T, XM_017022332.2:c.755A>G, XM_017022332.2:c.755A>T, XM_017022332.1:c.755A>G, XM_017022332.1:c.755A>T, XM_017022333.3:c.755A>G, XM_017022333.3:c.755A>T, XM_017022333.2:c.755A>G, XM_017022333.2:c.755A>T, XM_017022333.1:c.755A>G, XM_017022333.1:c.755A>T, XM_017022334.3:c.755A>G, XM_017022334.3:c.755A>T, XM_017022334.2:c.755A>G, XM_017022334.2:c.755A>T, XM_017022334.1:c.755A>G, XM_017022334.1:c.755A>T, XM_017022335.3:c.755A>G, XM_017022335.3:c.755A>T, XM_017022335.2:c.755A>G, XM_017022335.2:c.755A>T, XM_017022335.1:c.755A>G, XM_017022335.1:c.755A>T, XM_024449964.2:c.755A>G, XM_024449964.2:c.755A>T, XM_024449964.1:c.755A>G, XM_024449964.1:c.755A>T, XM_047432699.1:c.755A>G, XM_047432699.1:c.755A>T, XM_047432700.1:c.755A>G, XM_047432700.1:c.755A>T, NM_019092.1:c.755A>G, NM_019092.1:c.755A>T, XP_011519989.1:p.Glu252Gly, XP_011519989.1:p.Glu252Val, XP_011519990.1:p.Glu252Gly, XP_011519990.1:p.Glu252Val, NP_001035540.1:p.Glu252Gly, NP_001035540.1:p.Glu252Val, NP_001035543.1:p.Glu252Gly, NP_001035543.1:p.Glu252Val, XP_011519991.1:p.Glu252Gly, XP_011519991.1:p.Glu252Val, XP_011519992.1:p.Glu252Gly, XP_011519992.1:p.Glu252Val, XP_016877821.1:p.Glu252Gly, XP_016877821.1:p.Glu252Val, XP_016877822.1:p.Glu252Gly, XP_016877822.1:p.Glu252Val, XP_016877823.1:p.Glu252Gly, XP_016877823.1:p.Glu252Val, XP_016877824.1:p.Glu252Gly, XP_016877824.1:p.Glu252Val, XP_024305732.1:p.Glu252Gly, XP_024305732.1:p.Glu252Val, XP_047288655.1:p.Glu252Gly, XP_047288655.1:p.Glu252Val, XP_047288656.1:p.Glu252Gly, XP_047288656.1:p.Glu252Val

Select item 147314639518.

rs1473146395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:58821777 (GRCh38)
15:59113976 (GRCh37)
Canonical SPDI:: NC_000015.10:58821776:A:G,NC_000015.10:58821776:A:T
Gene:: MINDY2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.58821777A>G, NC_000015.10:g.58821777A>T, NC_000015.9:g.59113976A>G, NC_000015.9:g.59113976A>T, XM_011521687.3:c.1237A>G, XM_011521687.3:c.1237A>T, XM_011521687.2:c.1237A>G, XM_011521687.2:c.1237A>T, XM_011521687.1:c.1237A>G, XM_011521687.1:c.1237A>T, XM_011521688.3:c.1237A>G, XM_011521688.3:c.1237A>T, XM_011521688.2:c.1237A>G, XM_011521688.2:c.1237A>T, XM_011521688.1:c.1237A>G, XM_011521688.1:c.1237A>T, NM_001040450.3:c.1183A>G, NM_001040450.3:c.1183A>T, NM_001040450.2:c.1183A>G, NM_001040450.2:c.1183A>T, NM_001040450.1:c.1183A>G, NM_001040450.1:c.1183A>T, NM_001040453.3:c.1183A>G, NM_001040453.3:c.1183A>T, NM_001040453.2:c.1183A>G, NM_001040453.2:c.1183A>T, NM_001040453.1:c.1183A>G, NM_001040453.1:c.1183A>T, XM_011521689.3:c.1135A>G, XM_011521689.3:c.1135A>T, XM_011521689.2:c.1135A>G, XM_011521689.2:c.1135A>T, XM_011521689.1:c.1135A>G, XM_011521689.1:c.1135A>T, XM_011521690.3:c.1081A>G, XM_011521690.3:c.1081A>T, XM_011521690.2:c.1081A>G, XM_011521690.2:c.1081A>T, XM_011521690.1:c.1081A>G, XM_011521690.1:c.1081A>T, XM_024449964.2:c.1081A>G, XM_024449964.2:c.1081A>T, XM_024449964.1:c.1081A>G, XM_024449964.1:c.1081A>T, XM_047432699.1:c.1135A>G, XM_047432699.1:c.1135A>T, NM_019092.1:c.1081A>G, NM_019092.1:c.1081A>T, XP_011519989.1:p.Ile413Val, XP_011519989.1:p.Ile413Phe, XP_011519990.1:p.Ile413Val, XP_011519990.1:p.Ile413Phe, NP_001035540.1:p.Ile395Val, NP_001035540.1:p.Ile395Phe, NP_001035543.1:p.Ile395Val, NP_001035543.1:p.Ile395Phe, XP_011519991.1:p.Ile379Val, XP_011519991.1:p.Ile379Phe, XP_011519992.1:p.Ile361Val, XP_011519992.1:p.Ile361Phe, XP_024305732.1:p.Ile361Val, XP_024305732.1:p.Ile361Phe, XP_047288655.1:p.Ile379Val, XP_047288655.1:p.Ile379Phe

Select item 147157183219.

rs1471571832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:58772070 (GRCh38)
15:59064269 (GRCh37)
Canonical SPDI:: NC_000015.10:58772069:G:C
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.58772070G>C, NC_000015.9:g.59064269G>C, XM_011521687.3:c.675G>C, XM_011521687.2:c.675G>C, XM_011521687.1:c.675G>C, XM_011521688.3:c.675G>C, XM_011521688.2:c.675G>C, XM_011521688.1:c.675G>C, NM_001040450.3:c.675G>C, NM_001040450.2:c.675G>C, NM_001040450.1:c.675G>C, NM_001040453.3:c.675G>C, NM_001040453.2:c.675G>C, NM_001040453.1:c.675G>C, XM_011521689.3:c.675G>C, XM_011521689.2:c.675G>C, XM_011521689.1:c.675G>C, XM_011521690.3:c.675G>C, XM_011521690.2:c.675G>C, XM_011521690.1:c.675G>C, XM_017022332.3:c.675G>C, XM_017022332.2:c.675G>C, XM_017022332.1:c.675G>C, XM_017022333.3:c.675G>C, XM_017022333.2:c.675G>C, XM_017022333.1:c.675G>C, XM_017022334.3:c.675G>C, XM_017022334.2:c.675G>C, XM_017022334.1:c.675G>C, XM_017022335.3:c.675G>C, XM_017022335.2:c.675G>C, XM_017022335.1:c.675G>C, XM_024449964.2:c.675G>C, XM_024449964.1:c.675G>C, XM_047432699.1:c.675G>C, XM_047432700.1:c.675G>C, NM_019092.1:c.675G>C, XP_011519989.1:p.Glu225Asp, XP_011519990.1:p.Glu225Asp, NP_001035540.1:p.Glu225Asp, NP_001035543.1:p.Glu225Asp, XP_011519991.1:p.Glu225Asp, XP_011519992.1:p.Glu225Asp, XP_016877821.1:p.Glu225Asp, XP_016877822.1:p.Glu225Asp, XP_016877823.1:p.Glu225Asp, XP_016877824.1:p.Glu225Asp, XP_024305732.1:p.Glu225Asp, XP_047288655.1:p.Glu225Asp, XP_047288656.1:p.Glu225Asp

Select item 147112047120.

rs1471120471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:58771409 (GRCh38)
15:59063608 (GRCh37)
Canonical SPDI:: NC_000015.10:58771408:C:G,NC_000015.10:58771408:C:T
Gene:: MINDY2 (Varview), MINDY2-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.58771409C>G, NC_000015.10:g.58771409C>T, NC_000015.9:g.59063608C>G, NC_000015.9:g.59063608C>T, XM_011521687.3:c.14C>G, XM_011521687.3:c.14C>T, XM_011521687.2:c.14C>G, XM_011521687.2:c.14C>T, XM_011521687.1:c.14C>G, XM_011521687.1:c.14C>T, XM_011521688.3:c.14C>G, XM_011521688.3:c.14C>T, XM_011521688.2:c.14C>G, XM_011521688.2:c.14C>T, XM_011521688.1:c.14C>G, XM_011521688.1:c.14C>T, NM_001040450.3:c.14C>G, NM_001040450.3:c.14C>T, NM_001040450.2:c.14C>G, NM_001040450.2:c.14C>T, NM_001040450.1:c.14C>G, NM_001040450.1:c.14C>T, NM_001040453.3:c.14C>G, NM_001040453.3:c.14C>T, NM_001040453.2:c.14C>G, NM_001040453.2:c.14C>T, NM_001040453.1:c.14C>G, NM_001040453.1:c.14C>T, XM_011521689.3:c.14C>G, XM_011521689.3:c.14C>T, XM_011521689.2:c.14C>G, XM_011521689.2:c.14C>T, XM_011521689.1:c.14C>G, XM_011521689.1:c.14C>T, XM_011521690.3:c.14C>G, XM_011521690.3:c.14C>T, XM_011521690.2:c.14C>G, XM_011521690.2:c.14C>T, XM_011521690.1:c.14C>G, XM_011521690.1:c.14C>T, XM_017022332.3:c.14C>G, XM_017022332.3:c.14C>T, XM_017022332.2:c.14C>G, XM_017022332.2:c.14C>T, XM_017022332.1:c.14C>G, XM_017022332.1:c.14C>T, XM_017022333.3:c.14C>G, XM_017022333.3:c.14C>T, XM_017022333.2:c.14C>G, XM_017022333.2:c.14C>T, XM_017022333.1:c.14C>G, XM_017022333.1:c.14C>T, XM_017022334.3:c.14C>G, XM_017022334.3:c.14C>T, XM_017022334.2:c.14C>G, XM_017022334.2:c.14C>T, XM_017022334.1:c.14C>G, XM_017022334.1:c.14C>T, XM_017022335.3:c.14C>G, XM_017022335.3:c.14C>T, XM_017022335.2:c.14C>G, XM_017022335.2:c.14C>T, XM_017022335.1:c.14C>G, XM_017022335.1:c.14C>T, XM_024449964.2:c.14C>G, XM_024449964.2:c.14C>T, XM_024449964.1:c.14C>G, XM_024449964.1:c.14C>T, XM_047432699.1:c.14C>G, XM_047432699.1:c.14C>T, XM_047432700.1:c.14C>G, XM_047432700.1:c.14C>T, NM_019092.1:c.14C>G, NM_019092.1:c.14C>T, XP_011519989.1:p.Pro5Arg, XP_011519989.1:p.Pro5Leu, XP_011519990.1:p.Pro5Arg, XP_011519990.1:p.Pro5Leu, NP_001035540.1:p.Pro5Arg, NP_001035540.1:p.Pro5Leu, NP_001035543.1:p.Pro5Arg, NP_001035543.1:p.Pro5Leu, XP_011519991.1:p.Pro5Arg, XP_011519991.1:p.Pro5Leu, XP_011519992.1:p.Pro5Arg, XP_011519992.1:p.Pro5Leu, XP_016877821.1:p.Pro5Arg, XP_016877821.1:p.Pro5Leu, XP_016877822.1:p.Pro5Arg, XP_016877822.1:p.Pro5Leu, XP_016877823.1:p.Pro5Arg, XP_016877823.1:p.Pro5Leu, XP_016877824.1:p.Pro5Arg, XP_016877824.1:p.Pro5Leu, XP_024305732.1:p.Pro5Arg, XP_024305732.1:p.Pro5Leu, XP_047288655.1:p.Pro5Arg, XP_047288655.1:p.Pro5Leu, XP_047288656.1:p.Pro5Arg, XP_047288656.1:p.Pro5Leu

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