SNP Links for Gene (Select 84992) - SNP

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Select item 14905998401.

rs1490599840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:88524295 (GRCh38)
4:89445446 (GRCh37)
Canonical SPDI:: NC_000004.12:88524294:C:G,NC_000004.12:88524294:C:T
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (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)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88524295C>G, NC_000004.12:g.88524295C>T, NC_000004.11:g.89445446C>G, NC_000004.11:g.89445446C>T, NG_046719.1:g.4507G>C, NG_046719.1:g.4507G>A

Select item 14888852022.

rs1488885202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88524139 (GRCh38)
4:89445290 (GRCh37)
Canonical SPDI:: NC_000004.12:88524138:G:A
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_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_000004.12:g.88524139G>A, NC_000004.11:g.89445290G>A, NG_046719.1:g.4663C>T

Select item 14884133863.

rs1488413386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88523812 (GRCh38)
4:89444963 (GRCh37)
Canonical SPDI:: NC_000004.12:88523811:G:A
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.88523812G>A, NC_000004.11:g.89444963G>A, NG_046719.1:g.4990C>T, NR_134662.1:n.3G>A, NR_134663.1:n.3G>A

Select item 14883633334.

rs1488363333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:88523041 (GRCh38)
4:89444192 (GRCh37)
Canonical SPDI:: NC_000004.12:88523040:T:C,NC_000004.12:88523040:T:G
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.88523041T>C, NC_000004.12:g.88523041T>G, NC_000004.11:g.89444192T>C, NC_000004.11:g.89444192T>G, NG_046719.1:g.5761A>G, NG_046719.1:g.5761A>C

Select item 14878094585.

rs1487809458 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 4:88523034 (GRCh38)
4:89444185 (GRCh37)
Canonical SPDI:: NC_000004.12:88523033:C:
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.88523034del, NC_000004.11:g.89444185del, NG_046719.1:g.5768del

Select item 14877607376.

rs1487760737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88520495 (GRCh38)
4:89441646 (GRCh37)
Canonical SPDI:: NC_000004.12:88520494:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.88520495T>C, NC_000004.11:g.89441646T>C, NG_046719.1:g.8307A>G

Select item 14873159907.

rs1487315990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:88522431 (GRCh38)
4:89443582 (GRCh37)
Canonical SPDI:: NC_000004.12:88522430:G:T
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88522431G>T, NC_000004.11:g.89443582G>T, NG_046719.1:g.6371C>A

Select item 14872816268.

rs1487281626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:88521396 (GRCh38)
4:89442547 (GRCh37)
Canonical SPDI:: NC_000004.12:88521395:G:C
Gene:: PIGY (Varview), PYURF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88521396G>C, NC_000004.11:g.89442547G>C, NG_046719.1:g.7406C>G, NM_001042616.3:c.*178C>G, NM_001042616.2:c.*178C>G, NM_032906.5:c.*492C>G, NM_032906.4:c.*492C>G

Select item 14862809609.

rs1486280960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:88521983 (GRCh38)
4:89443134 (GRCh37)
Canonical SPDI:: NC_000004.12:88521982:C:A,NC_000004.12:88521982:C:T
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.88521983C>A, NC_000004.12:g.88521983C>T, NC_000004.11:g.89443134C>A, NC_000004.11:g.89443134C>T, NG_046719.1:g.6819G>T, NG_046719.1:g.6819G>A, NM_001042616.3:c.-194G>T, NM_001042616.3:c.-194G>A, NM_001042616.2:c.-194G>T, NM_001042616.2:c.-194G>A, NM_032906.5:c.250G>T, NM_032906.5:c.250G>A, NM_032906.4:c.250G>T, NM_032906.4:c.250G>A, NP_116295.1:p.Ala84Ser, NP_116295.1:p.Ala84Thr

Select item 148518848510.

rs1485188485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:88525441 (GRCh38)
4:89446592 (GRCh37)
Canonical SPDI:: NC_000004.12:88525440:C:G
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_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.88525441C>G, NC_000004.11:g.89446592C>G, NG_046719.1:g.3361G>C

Select item 148432161411.

rs1484321614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:88520813 (GRCh38)
4:89441964 (GRCh37)
Canonical SPDI:: NC_000004.12:88520812:C:G
Gene:: PIGY (Varview), PYURF (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.88520813C>G, NC_000004.11:g.89441964C>G, NG_046719.1:g.7989G>C

Select item 148361448412.

rs1483614484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88523520 (GRCh38)
4:89444671 (GRCh37)
Canonical SPDI:: NC_000004.12:88523519:G:A
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.88523520G>A, NC_000004.11:g.89444671G>A, NG_046719.1:g.5282C>T, NM_001042616.3:c.-263C>T, NM_001042616.2:c.-263C>T, NM_032906.5:c.181C>T, NM_032906.4:c.181C>T, NP_116295.1:p.Pro61Ser

Select item 148353464713.

rs1483534647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:88523782 (GRCh38)
4:89444933 (GRCh37)
Canonical SPDI:: NC_000004.12:88523781:C:G
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88523782C>G, NC_000004.11:g.89444933C>G, NG_046719.1:g.5020G>C, NM_001042616.2:c.-525G>C, NM_032906.4:c.-82G>C

Select item 148297884014.

rs1482978840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88523587 (GRCh38)
4:89444738 (GRCh37)
Canonical SPDI:: NC_000004.12:88523586:G:A
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.88523587G>A, NC_000004.11:g.89444738G>A, NG_046719.1:g.5215C>T, NM_001042616.3:c.-330C>T, NM_001042616.2:c.-330C>T, NM_032906.5:c.114C>T, NM_032906.4:c.114C>T

Select item 148098785815.

rs1480987858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:88524071 (GRCh38)
4:89445222 (GRCh37)
Canonical SPDI:: NC_000004.12:88524070:C:T
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88524071C>T, NC_000004.11:g.89445222C>T, NG_046719.1:g.4731G>A

Select item 148070841416.

rs1480708414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:88524236 (GRCh38)
4:89445387 (GRCh37)
Canonical SPDI:: NC_000004.12:88524235:G:A
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.88524236G>A, NC_000004.11:g.89445387G>A, NG_046719.1:g.4566C>T

Select item 147986089917.

rs1479860899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:88524882 (GRCh38)
4:89446033 (GRCh37)
Canonical SPDI:: NC_000004.12:88524881:T:G
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_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.88524882T>G, NC_000004.11:g.89446033T>G, NG_046719.1:g.3920A>C, NR_134662.1:n.250T>G, NR_134663.1:n.241T>G

Select item 147973016018.

rs1479730160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:88523806 (GRCh38)
4:89444957 (GRCh37)
Canonical SPDI:: NC_000004.12:88523805:C:G,NC_000004.12:88523805:C:T
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88523806C>G, NC_000004.12:g.88523806C>T, NC_000004.11:g.89444957C>G, NC_000004.11:g.89444957C>T, NG_046719.1:g.4996G>C, NG_046719.1:g.4996G>A

Select item 147935556019.

rs1479355560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88523137 (GRCh38)
4:89444288 (GRCh37)
Canonical SPDI:: NC_000004.12:88523136:T:C
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview), PIGY-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000079/11 (GnomAD)
C=0.000159/42 (TOPMED)
HGVS:: NC_000004.12:g.88523137T>C, NC_000004.11:g.89444288T>C, NG_046719.1:g.5665A>G

Select item 147904877220.

rs1479048772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88525555 (GRCh38)
4:89446706 (GRCh37)
Canonical SPDI:: NC_000004.12:88525554:A:G
Gene:: HERC3 (Varview), PIGY (Varview), PYURF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.88525555A>G, NC_000004.11:g.89446706A>G, NG_046719.1:g.3247T>C

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