SNP Links for Gene (Select 55738) - SNP

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Select item 14915638311.

rs1491563831 has merged into rs766440194 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCCCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 20:63274316 (GRCh38)
20:61905668 (GRCh37)
Canonical SPDI:: NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000020.11:g.63274316_63274328del, NC_000020.11:g.63274317_63274328del, NC_000020.11:g.63274318_63274328del, NC_000020.11:g.63274319_63274328del, NC_000020.11:g.63274320_63274328del, NC_000020.11:g.63274321_63274328del, NC_000020.11:g.63274322_63274328del, NC_000020.11:g.63274323_63274328del, NC_000020.11:g.63274324_63274328del, NC_000020.11:g.63274325_63274328del, NC_000020.11:g.63274326_63274328del, NC_000020.11:g.63274327_63274328del, NC_000020.11:g.63274328del, NC_000020.11:g.63274328dup, NC_000020.11:g.63274327_63274328dup, NC_000020.11:g.63274326_63274328dup, NC_000020.11:g.63274325_63274328dup, NC_000020.11:g.63274324_63274328dup, NC_000020.11:g.63274323_63274328dup, NC_000020.11:g.63274322_63274328dup, NC_000020.11:g.63274316_63274328dup, NC_000020.10:g.61905668_61905680del, NC_000020.10:g.61905669_61905680del, NC_000020.10:g.61905670_61905680del, NC_000020.10:g.61905671_61905680del, NC_000020.10:g.61905672_61905680del, NC_000020.10:g.61905673_61905680del, NC_000020.10:g.61905674_61905680del, NC_000020.10:g.61905675_61905680del, NC_000020.10:g.61905676_61905680del, NC_000020.10:g.61905677_61905680del, NC_000020.10:g.61905678_61905680del, NC_000020.10:g.61905679_61905680del, NC_000020.10:g.61905680del, NC_000020.10:g.61905680dup, NC_000020.10:g.61905679_61905680dup, NC_000020.10:g.61905678_61905680dup, NC_000020.10:g.61905677_61905680dup, NC_000020.10:g.61905676_61905680dup, NC_000020.10:g.61905675_61905680dup, NC_000020.10:g.61905674_61905680dup, NC_000020.10:g.61905668_61905680dup

Select item 14914553682.

rs1491455368 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TC
Chromosome:: no mapping
Canonical SPDI:

Select item 14911521403.

rs1491152140 has merged into rs766440194 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCCCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 20:63274316 (GRCh38)
20:61905668 (GRCh37)
Canonical SPDI:: NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000020.11:63274311:CCCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000020.11:g.63274316_63274328del, NC_000020.11:g.63274317_63274328del, NC_000020.11:g.63274318_63274328del, NC_000020.11:g.63274319_63274328del, NC_000020.11:g.63274320_63274328del, NC_000020.11:g.63274321_63274328del, NC_000020.11:g.63274322_63274328del, NC_000020.11:g.63274323_63274328del, NC_000020.11:g.63274324_63274328del, NC_000020.11:g.63274325_63274328del, NC_000020.11:g.63274326_63274328del, NC_000020.11:g.63274327_63274328del, NC_000020.11:g.63274328del, NC_000020.11:g.63274328dup, NC_000020.11:g.63274327_63274328dup, NC_000020.11:g.63274326_63274328dup, NC_000020.11:g.63274325_63274328dup, NC_000020.11:g.63274324_63274328dup, NC_000020.11:g.63274323_63274328dup, NC_000020.11:g.63274322_63274328dup, NC_000020.11:g.63274316_63274328dup, NC_000020.10:g.61905668_61905680del, NC_000020.10:g.61905669_61905680del, NC_000020.10:g.61905670_61905680del, NC_000020.10:g.61905671_61905680del, NC_000020.10:g.61905672_61905680del, NC_000020.10:g.61905673_61905680del, NC_000020.10:g.61905674_61905680del, NC_000020.10:g.61905675_61905680del, NC_000020.10:g.61905676_61905680del, NC_000020.10:g.61905677_61905680del, NC_000020.10:g.61905678_61905680del, NC_000020.10:g.61905679_61905680del, NC_000020.10:g.61905680del, NC_000020.10:g.61905680dup, NC_000020.10:g.61905679_61905680dup, NC_000020.10:g.61905678_61905680dup, NC_000020.10:g.61905677_61905680dup, NC_000020.10:g.61905676_61905680dup, NC_000020.10:g.61905675_61905680dup, NC_000020.10:g.61905674_61905680dup, NC_000020.10:g.61905668_61905680dup

Select item 14911264974.

rs1491126497 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 20:63274311 (GRCh38)
20:61905663 (GRCh37)
Canonical SPDI:: NC_000020.11:63274310:AC:
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00674/80 (ALFA)
HGVS:: NC_000020.11:g.63274311_63274312del, NC_000020.10:g.61905663_61905664del

Select item 14908834415.

rs1490883441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:63272725 (GRCh38)
20:61904077 (GRCh37)
Canonical SPDI:: NC_000020.11:63272724:G:A,NC_000020.11:63272724:G:C
Gene:: ARFGAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.63272725G>A, NC_000020.11:g.63272725G>C, NC_000020.10:g.61904077G>A, NC_000020.10:g.61904077G>C

Select item 14908207376.

rs1490820737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63275532 (GRCh38)
20:61906884 (GRCh37)
Canonical SPDI:: NC_000020.11:63275531:G:A
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63275532G>A, NC_000020.10:g.61906884G>A

Select item 14906401977.

rs1490640197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63276306 (GRCh38)
20:61907658 (GRCh37)
Canonical SPDI:: NC_000020.11:63276305:A:G
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000895/4 (ALFA)
G=0.000029/4 (GnomAD)
G=0.001116/5 (Estonian)
HGVS:: NC_000020.11:g.63276306A>G, NC_000020.10:g.61907658A>G

Select item 14906306418.

rs1490630641 [Homo sapiens]

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

Select item 14906116969.

rs1490611696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63272334 (GRCh38)
20:61903686 (GRCh37)
Canonical SPDI:: NC_000020.11:63272333:C:T
Gene:: ARFGAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000020.11:g.63272334C>T, NC_000020.10:g.61903686C>T

Select item 149055648610.

rs1490556486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63289624 (GRCh38)
20:61920976 (GRCh37)
Canonical SPDI:: NC_000020.11:63289623:G:A
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.63289624G>A, NC_000020.10:g.61920976G>A, NM_018209.4:c.*1751G>A, NM_018209.3:c.*1751G>A, NM_175609.3:c.*1751G>A, NM_175609.2:c.*1751G>A, XM_006723823.3:c.*1751G>A, XM_006723823.2:c.*1751G>A, XM_006723823.1:c.*1751G>A, NM_001281482.2:c.*1999G>A, NM_001281482.1:c.*1999G>A, XM_017027950.2:c.*1751G>A, XM_017027950.1:c.*1751G>A, XM_011528901.2:c.*1751G>A, XM_011528901.1:c.*1751G>A, NM_001281483.2:c.*1751G>A, NM_001281483.1:c.*1751G>A, NM_001281484.2:c.*1751G>A, NM_001281484.1:c.*1751G>A, NR_104023.2:n.2809G>A, NR_104023.1:n.3006G>A, NR_104022.2:n.2456G>A, NR_104022.1:n.2653G>A, XM_047440287.1:c.*1751G>A, XM_047440288.1:c.*1751G>A

Select item 149033164611.

rs1490331646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63271518 (GRCh38)
20:61902870 (GRCh37)
Canonical SPDI:: NC_000020.11:63271517:A:G
Gene:: ARFGAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.63271518A>G, NC_000020.10:g.61902870A>G

Select item 149018956112.

rs1490189561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63288029 (GRCh38)
20:61919381 (GRCh37)
Canonical SPDI:: NC_000020.11:63288028:G:A
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000043/6 (GnomAD)
HGVS:: NC_000020.11:g.63288029G>A, NC_000020.10:g.61919381G>A, NM_018209.4:c.*156G>A, NM_018209.3:c.*156G>A, NM_175609.3:c.*156G>A, NM_175609.2:c.*156G>A, XM_006723823.3:c.*156G>A, XM_006723823.2:c.*156G>A, XM_006723823.1:c.*156G>A, NM_001281482.2:c.*404G>A, NM_001281482.1:c.*404G>A, XM_017027950.2:c.*156G>A, XM_017027950.1:c.*156G>A, XM_011528901.2:c.*156G>A, XM_011528901.1:c.*156G>A, NM_001281483.2:c.*156G>A, NM_001281483.1:c.*156G>A, NM_001281484.2:c.*156G>A, NM_001281484.1:c.*156G>A, XR_001754329.2:n.1519G>A, XR_001754329.1:n.1530G>A, NR_104023.2:n.1214G>A, NR_104023.1:n.1411G>A, NR_104022.2:n.861G>A, NR_104022.1:n.1058G>A, XM_047440287.1:c.*156G>A, XM_047440288.1:c.*156G>A, XR_007067466.1:n.1508G>A, XR_007067465.1:n.1489G>A, XR_007067467.1:n.1483G>A

Select item 149009474613.

rs1490094746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63283329 (GRCh38)
20:61914681 (GRCh37)
Canonical SPDI:: NC_000020.11:63283328:T:C
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_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_000020.11:g.63283329T>C, NC_000020.10:g.61914681T>C

Select item 149001959814.

rs1490019598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:63278260 (GRCh38)
20:61909612 (GRCh37)
Canonical SPDI:: NC_000020.11:63278259:T:C,NC_000020.11:63278259:T:G
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.63278260T>C, NC_000020.11:g.63278260T>G, NC_000020.10:g.61909612T>C, NC_000020.10:g.61909612T>G

Select item 149001359615.

rs1490013596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63287972 (GRCh38)
20:61919324 (GRCh37)
Canonical SPDI:: NC_000020.11:63287971:A:G
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63287972A>G, NC_000020.10:g.61919324A>G, NM_018209.4:c.*99A>G, NM_018209.3:c.*99A>G, NM_175609.3:c.*99A>G, NM_175609.2:c.*99A>G, XM_006723823.3:c.*99A>G, XM_006723823.2:c.*99A>G, XM_006723823.1:c.*99A>G, NM_001281482.2:c.*347A>G, NM_001281482.1:c.*347A>G, XM_017027950.2:c.*99A>G, XM_017027950.1:c.*99A>G, XM_011528901.2:c.*99A>G, XM_011528901.1:c.*99A>G, NM_001281483.2:c.*99A>G, NM_001281483.1:c.*99A>G, NM_001281484.2:c.*99A>G, NM_001281484.1:c.*99A>G, XR_001754329.2:n.1462A>G, XR_001754329.1:n.1473A>G, NR_104023.2:n.1157A>G, NR_104023.1:n.1354A>G, NR_104022.2:n.804A>G, NR_104022.1:n.1001A>G, XM_047440287.1:c.*99A>G, XM_047440288.1:c.*99A>G, XR_007067466.1:n.1451A>G, XR_007067465.1:n.1432A>G, XR_007067467.1:n.1426A>G

Select item 148999631016.

rs1489996310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:63277481 (GRCh38)
20:61908833 (GRCh37)
Canonical SPDI:: NC_000020.11:63277480:G:T
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63277481G>T, NC_000020.10:g.61908833G>T

Select item 148986388617.

rs1489863886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63276728 (GRCh38)
20:61908080 (GRCh37)
Canonical SPDI:: NC_000020.11:63276727:T:C
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63276728T>C, NC_000020.10:g.61908080T>C

Select item 148984244218.

rs1489842442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63271909 (GRCh38)
20:61903261 (GRCh37)
Canonical SPDI:: NC_000020.11:63271908:G:A
Gene:: ARFGAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.63271909G>A, NC_000020.10:g.61903261G>A

Select item 148983717719.

rs1489837177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:63276677 (GRCh38)
20:61908030 (GRCh37)
Canonical SPDI:: NC_000020.11:63276677:CCC:CCCC
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63276680dup, NC_000020.10:g.61908032dup

Select item 148982355220.

rs1489823552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:63275387 (GRCh38)
20:61906739 (GRCh37)
Canonical SPDI:: NC_000020.11:63275386:G:T
Gene:: ARFGAP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000020.11:g.63275387G>T, NC_000020.10:g.61906739G>T

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