SNP Links for Gene (Select 100533182) - SNP

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Select item 14912034191.

rs1491203419 has merged into rs55721905 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATTAAAAAAGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATTAACAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:109430074 (GRCh38)
4:110351230 (GRCh37)
Canonical SPDI:: NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAGAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109430063:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATTAACAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.109430074_109430082del, NC_000004.12:g.109430077_109430082del, NC_000004.12:g.109430078_109430082del, NC_000004.12:g.109430079_109430082del, NC_000004.12:g.109430080_109430082del, NC_000004.12:g.109430081_109430082del, NC_000004.12:g.109430082del, NC_000004.12:g.109430082dup, NC_000004.12:g.109430081_109430082dup, NC_000004.12:g.109430080_109430082dup, NC_000004.12:g.109430079_109430082dup, NC_000004.12:g.109430078_109430082dup, NC_000004.12:g.109430077_109430082dup, NC_000004.12:g.109430076_109430082dup, NC_000004.12:g.109430075_109430082dup, NC_000004.12:g.109430082_109430083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.109430082_109430083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.109430064_109430082A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.109430064_109430082A[24]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.109430064_109430082A[24]TTAAAAAAGAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.109430064_109430082A[24]TTAACAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110351230_110351238del, NC_000004.11:g.110351233_110351238del, NC_000004.11:g.110351234_110351238del, NC_000004.11:g.110351235_110351238del, NC_000004.11:g.110351236_110351238del, NC_000004.11:g.110351237_110351238del, NC_000004.11:g.110351238del, NC_000004.11:g.110351238dup, NC_000004.11:g.110351237_110351238dup, NC_000004.11:g.110351236_110351238dup, NC_000004.11:g.110351235_110351238dup, NC_000004.11:g.110351234_110351238dup, NC_000004.11:g.110351233_110351238dup, NC_000004.11:g.110351232_110351238dup, NC_000004.11:g.110351231_110351238dup, NC_000004.11:g.110351238_110351239insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.110351238_110351239insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.110351220_110351238A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110351220_110351238A[24]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110351220_110351238A[24]TTAAAAAAGAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110351220_110351238A[24]TTAACAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032166.1:g.1260_1268del, NG_032166.1:g.1263_1268del, NG_032166.1:g.1264_1268del, NG_032166.1:g.1265_1268del, NG_032166.1:g.1266_1268del, NG_032166.1:g.1267_1268del, NG_032166.1:g.1268del, NG_032166.1:g.1268dup, NG_032166.1:g.1267_1268dup, NG_032166.1:g.1266_1268dup, NG_032166.1:g.1265_1268dup, NG_032166.1:g.1264_1268dup, NG_032166.1:g.1263_1268dup, NG_032166.1:g.1262_1268dup, NG_032166.1:g.1261_1268dup, NG_032166.1:g.1268_1269insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032166.1:g.1268_1269insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032166.1:g.1250_1268A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032166.1:g.1250_1268A[24]TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032166.1:g.1250_1268A[24]TTAAAAAAGAAAAAAAAAAAAAAAAAAAA[1], NG_032166.1:g.1250_1268A[24]TTAACAAAAAAAAAAAAAAAAAAAAAAAAA[1], NR_039978.1:n.848_856del, NR_039978.1:n.851_856del, NR_039978.1:n.852_856del, NR_039978.1:n.853_856del, NR_039978.1:n.854_856del, NR_039978.1:n.855_856del, NR_039978.1:n.856del, NR_039978.1:n.856dup, NR_039978.1:n.855_856dup, NR_039978.1:n.854_856dup, NR_039978.1:n.853_856dup, NR_039978.1:n.852_856dup, NR_039978.1:n.851_856dup, NR_039978.1:n.850_856dup, NR_039978.1:n.849_856dup, NR_039978.1:n.856_857insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_039978.1:n.856_857insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NR_039978.1:n.838_856T[30]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NR_039978.1:n.838_856T[28]AATTTTTTTTTTTTTTTTTTTTTTTT[1], NR_039978.1:n.838_856T[20]CTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTT[1], NR_039978.1:n.838_856T[25]GTTAATTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14907103632.

rs1490710363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109434143 (GRCh38)
4:110355299 (GRCh37)
Canonical SPDI:: NC_000004.12:109434142:G:A
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.109434143G>A, NC_000004.11:g.110355299G>A, NG_032166.1:g.5329G>A

Select item 14896284143.

rs1489628414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109432803 (GRCh38)
4:110353959 (GRCh37)
Canonical SPDI:: NC_000004.12:109432802:T:C
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.109432803T>C, NC_000004.11:g.110353959T>C, NG_032166.1:g.3989T>C

Select item 14892455954.

rs1489245595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:109434226 (GRCh38)
4:110355382 (GRCh37)
Canonical SPDI:: NC_000004.12:109434225:G:C,NC_000004.12:109434225:G:T
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109434226G>C, NC_000004.12:g.109434226G>T, NC_000004.11:g.110355382G>C, NC_000004.11:g.110355382G>T, NG_032166.1:g.5412G>C, NG_032166.1:g.5412G>T

Select item 14888409045.

rs1488840904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109433233 (GRCh38)
4:110354389 (GRCh37)
Canonical SPDI:: NC_000004.12:109433232:G:A
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109433233G>A, NC_000004.11:g.110354389G>A, NG_032166.1:g.4419G>A

Select item 14885863096.

rs1488586309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109431306 (GRCh38)
4:110352462 (GRCh37)
Canonical SPDI:: NC_000004.12:109431305:C:T
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109431306C>T, NC_000004.11:g.110352462C>T, NG_032166.1:g.2492C>T

Select item 14885026997.

rs1488502699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:109430249 (GRCh38)
4:110351405 (GRCh37)
Canonical SPDI:: NC_000004.12:109430248:G:C
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000264/4 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000004.12:g.109430249G>C, NC_000004.11:g.110351405G>C, NG_032166.1:g.1435G>C, NR_039978.1:n.671C>G

Select item 14883640228.

rs1488364022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109434753 (GRCh38)
4:110355909 (GRCh37)
Canonical SPDI:: NC_000004.12:109434752:C:T
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.109434753C>T, NC_000004.11:g.110355909C>T, NG_032166.1:g.5939C>T, NG_077604.1:g.321C>T

Select item 14876914549.

rs1487691454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109430457 (GRCh38)
4:110351613 (GRCh37)
Canonical SPDI:: NC_000004.12:109430456:A:G
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.109430457A>G, NC_000004.11:g.110351613A>G, NG_032166.1:g.1643A>G, NR_039978.1:n.463T>C

Select item 148749029010.

rs1487490290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:109429825 (GRCh38)
4:110350981 (GRCh37)
Canonical SPDI:: NC_000004.12:109429824:C:A
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.001027/3 (KOREAN)
HGVS:: NC_000004.12:g.109429825C>A, NC_000004.11:g.110350981C>A, NG_032166.1:g.1011C>A

Select item 148732052511.

rs1487320525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:109434205 (GRCh38)
4:110355361 (GRCh37)
Canonical SPDI:: NC_000004.12:109434204:C:G
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00076/9 (ALFA)
G=0.01152/32 (KOREAN)
HGVS:: NC_000004.12:g.109434205C>G, NC_000004.11:g.110355361C>G, NG_032166.1:g.5391C>G

Select item 148665187412.

rs1486651874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109431872 (GRCh38)
4:110353028 (GRCh37)
Canonical SPDI:: NC_000004.12:109431871:T:C
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.109431872T>C, NC_000004.11:g.110353028T>C, NG_032166.1:g.3058T>C

Select item 148554783713.

rs1485547837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109433808 (GRCh38)
4:110354964 (GRCh37)
Canonical SPDI:: NC_000004.12:109433807:C:T
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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_000004.12:g.109433808C>T, NC_000004.11:g.110354964C>T, NG_032166.1:g.4994C>T, NM_006323.4:c.-62C>T, NM_006323.3:c.-62C>T, NM_001042734.3:c.-62C>T, NM_001300813.2:c.-62C>T, NM_001042734.2:c.-62C>T, NM_001300813.1:c.-62C>T, NM_001318085.1:c.-62C>T, NM_001318086.1:c.-62C>T, NR_039978.1:n.10G>A

Select item 148486908614.

rs1484869086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109433070 (GRCh38)
4:110354226 (GRCh37)
Canonical SPDI:: NC_000004.12:109433069:C:T
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109433070C>T, NC_000004.11:g.110354226C>T, NG_032166.1:g.4256C>T

Select item 148466410215.

rs1484664102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109429781 (GRCh38)
4:110350937 (GRCh37)
Canonical SPDI:: NC_000004.12:109429780:C:T
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000004.12:g.109429781C>T, NC_000004.11:g.110350937C>T, NG_032166.1:g.967C>T

Select item 148447874116.

rs1484478741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:109429523 (GRCh38)
4:110350679 (GRCh37)
Canonical SPDI:: NC_000004.12:109429522:T:G
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000004.12:g.109429523T>G, NC_000004.11:g.110350679T>G, NG_032166.1:g.709T>G

Select item 148337670717.

rs1483376707 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 4:109432998 (GRCh38)
4:110354155 (GRCh37)
Canonical SPDI:: NC_000004.12:109432998:A:AA,NC_000004.12:109432998:A:AAA
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.00156/26 (TOMMO)
HGVS:: NC_000004.12:g.109432999dup, NC_000004.12:g.109432999_109433000insAA, NC_000004.11:g.110354155dup, NC_000004.11:g.110354155_110354156insAA, NG_032166.1:g.4185dup, NG_032166.1:g.4185_4186insAA

Select item 148334517718.

rs1483345177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109431749 (GRCh38)
4:110352905 (GRCh37)
Canonical SPDI:: NC_000004.12:109431748:G:A
Gene:: SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109431749G>A, NC_000004.11:g.110352905G>A, NG_032166.1:g.2935G>A

Select item 148247084219.

rs1482470842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:109432889 (GRCh38)
4:110354045 (GRCh37)
Canonical SPDI:: NC_000004.12:109432888:G:T
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109432889G>T, NC_000004.11:g.110354045G>T, NG_032166.1:g.4075G>T

Select item 148235045120.

rs1482350451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109435170 (GRCh38)
4:110356326 (GRCh37)
Canonical SPDI:: NC_000004.12:109435169:A:G
Gene:: SEC24B (Varview), SEC24B-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.109435170A>G, NC_000004.11:g.110356326A>G, NG_032166.1:g.6356A>G

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