SNP Links for Gene (Select 5745) - SNP

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Select item 14914407521.

rs1491440752 has merged into rs771034289 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:46887466 (GRCh38)
3:46928956 (GRCh37)
Canonical SPDI:: NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:46887456:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000003.12:g.46887466_46887477del, NC_000003.12:g.46887467_46887477del, NC_000003.12:g.46887468_46887477del, NC_000003.12:g.46887469_46887477del, NC_000003.12:g.46887470_46887477del, NC_000003.12:g.46887471_46887477del, NC_000003.12:g.46887472_46887477del, NC_000003.12:g.46887473_46887477del, NC_000003.12:g.46887474_46887477del, NC_000003.12:g.46887475_46887477del, NC_000003.12:g.46887476_46887477del, NC_000003.12:g.46887477del, NC_000003.12:g.46887477dup, NC_000003.12:g.46887476_46887477dup, NC_000003.12:g.46887475_46887477dup, NC_000003.12:g.46887474_46887477dup, NC_000003.12:g.46887473_46887477dup, NC_000003.12:g.46887472_46887477dup, NC_000003.12:g.46887470_46887477dup, NC_000003.11:g.46928956_46928967del, NC_000003.11:g.46928957_46928967del, NC_000003.11:g.46928958_46928967del, NC_000003.11:g.46928959_46928967del, NC_000003.11:g.46928960_46928967del, NC_000003.11:g.46928961_46928967del, NC_000003.11:g.46928962_46928967del, NC_000003.11:g.46928963_46928967del, NC_000003.11:g.46928964_46928967del, NC_000003.11:g.46928965_46928967del, NC_000003.11:g.46928966_46928967del, NC_000003.11:g.46928967del, NC_000003.11:g.46928967dup, NC_000003.11:g.46928966_46928967dup, NC_000003.11:g.46928965_46928967dup, NC_000003.11:g.46928964_46928967dup, NC_000003.11:g.46928963_46928967dup, NC_000003.11:g.46928962_46928967dup, NC_000003.11:g.46928960_46928967dup, NG_008864.1:g.14721_14732del, NG_008864.1:g.14722_14732del, NG_008864.1:g.14723_14732del, NG_008864.1:g.14724_14732del, NG_008864.1:g.14725_14732del, NG_008864.1:g.14726_14732del, NG_008864.1:g.14727_14732del, NG_008864.1:g.14728_14732del, NG_008864.1:g.14729_14732del, NG_008864.1:g.14730_14732del, NG_008864.1:g.14731_14732del, NG_008864.1:g.14732del, NG_008864.1:g.14732dup, NG_008864.1:g.14731_14732dup, NG_008864.1:g.14730_14732dup, NG_008864.1:g.14729_14732dup, NG_008864.1:g.14728_14732dup, NG_008864.1:g.14727_14732dup, NG_008864.1:g.14725_14732dup

Select item 14909347732.

rs1490934773 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCTACAC [Show Flanks]
Chromosome:: 3:46884703 (GRCh38)
3:46926194 (GRCh37)
Canonical SPDI:: NC_000003.12:46884703:CCCTACAC:CCCTACACCCCTACAC
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCTACACCCCTACAC=0./0 (ALFA)
CCCTACAC=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.46884704_46884711dup, NC_000003.11:g.46926194_46926201dup, NG_007555.2:g.2459_2466dup, NG_008864.1:g.11959_11966dup

Select item 14908033103.

rs1490803310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:46890553 (GRCh38)
3:46932043 (GRCh37)
Canonical SPDI:: NC_000003.12:46890552:G:C
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00012/2 (ALFA)
C=0.000137/17 (GnomAD)
C=0.000156/1 (1000Genomes)
C=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.46890553G>C, NC_000003.11:g.46932043G>C, NG_008864.1:g.17808G>C

Select item 14907911594.

rs1490791159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:46876418 (GRCh38)
3:46917908 (GRCh37)
Canonical SPDI:: NC_000003.12:46876417:A:C,NC_000003.12:46876417:A:G
Gene:: PTH1R (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.46876418A>C, NC_000003.12:g.46876418A>G, NC_000003.11:g.46917908A>C, NC_000003.11:g.46917908A>G, NG_007555.2:g.10752T>G, NG_007555.2:g.10752T>C, NG_008864.1:g.3673A>C, NG_008864.1:g.3673A>G

Select item 14906367515.

rs1490636751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:46898522 (GRCh38)
3:46940012 (GRCh37)
Canonical SPDI:: NC_000003.12:46898521:T:A,NC_000003.12:46898521:T:C
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46898522T>A, NC_000003.12:g.46898522T>C, NC_000003.11:g.46940012T>A, NC_000003.11:g.46940012T>C, NG_008864.1:g.25777T>A, NG_008864.1:g.25777T>C

Select item 14905848166.

rs1490584816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:46891985 (GRCh38)
3:46933475 (GRCh37)
Canonical SPDI:: NC_000003.12:46891984:C:A,NC_000003.12:46891984:C:G,NC_000003.12:46891984:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46891985C>A, NC_000003.12:g.46891985C>G, NC_000003.12:g.46891985C>T, NC_000003.11:g.46933475C>A, NC_000003.11:g.46933475C>G, NC_000003.11:g.46933475C>T, NG_008864.1:g.19240C>A, NG_008864.1:g.19240C>G, NG_008864.1:g.19240C>T

Select item 14905200347.

rs1490520034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:46878477 (GRCh38)
3:46919967 (GRCh37)
Canonical SPDI:: NC_000003.12:46878476:T:C,NC_000003.12:46878476:T:G
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.46878477T>C, NC_000003.12:g.46878477T>G, NC_000003.11:g.46919967T>C, NC_000003.11:g.46919967T>G, NG_007555.2:g.8693A>G, NG_007555.2:g.8693A>C, NG_008864.1:g.5732T>C, NG_008864.1:g.5732T>G

Select item 14900284678.

rs1490028467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:46879074 (GRCh38)
3:46920564 (GRCh37)
Canonical SPDI:: NC_000003.12:46879073:A:G,NC_000003.12:46879073:A:T
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46879074A>G, NC_000003.12:g.46879074A>T, NC_000003.11:g.46920564A>G, NC_000003.11:g.46920564A>T, NG_007555.2:g.8096T>C, NG_007555.2:g.8096T>A, NG_008864.1:g.6329A>G, NG_008864.1:g.6329A>T

Select item 14898776239.

rs1489877623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46880575 (GRCh38)
3:46922065 (GRCh37)
Canonical SPDI:: NC_000003.12:46880574:A:G
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.46880575A>G, NC_000003.11:g.46922065A>G, NG_007555.2:g.6595T>C, NG_008864.1:g.7830A>G

Select item 148987672510.

rs1489876725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:46887575 (GRCh38)
3:46929065 (GRCh37)
Canonical SPDI:: NC_000003.12:46887574:T:G
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.46887575T>G, NC_000003.11:g.46929065T>G, NG_008864.1:g.14830T>G

Select item 148955524411.

rs1489555244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:46888722 (GRCh38)
3:46930212 (GRCh37)
Canonical SPDI:: NC_000003.12:46888721:G:C
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.0001/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46888722G>C, NC_000003.11:g.46930212G>C, NG_008864.1:g.15977G>C

Select item 148944307212.

rs1489443072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46903175 (GRCh38)
3:46944665 (GRCh37)
Canonical SPDI:: NC_000003.12:46903174:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.46903175C>T, NC_000003.11:g.46944665C>T, NG_008864.1:g.30430C>T

Select item 148940198013.

rs1489401980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46897157 (GRCh38)
3:46938647 (GRCh37)
Canonical SPDI:: NC_000003.12:46897156:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46897157C>T, NC_000003.11:g.46938647C>T, NG_008864.1:g.24412C>T

Select item 148926997614.

rs1489269976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46901495 (GRCh38)
3:46942985 (GRCh37)
Canonical SPDI:: NC_000003.12:46901494:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46901495G>A, NC_000003.11:g.46942985G>A, NG_008864.1:g.28750G>A

Select item 148914451815.

rs1489144518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:46901976 (GRCh38)
3:46943466 (GRCh37)
Canonical SPDI:: NC_000003.12:46901975:C:G
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46901976C>G, NC_000003.11:g.46943466C>G, NG_008864.1:g.29231C>G

Select item 148908192916.

rs1489081929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46890449 (GRCh38)
3:46931939 (GRCh37)
Canonical SPDI:: NC_000003.12:46890448:C:T
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46890449C>T, NC_000003.11:g.46931939C>T, NG_008864.1:g.17704C>T

Select item 148903546417.

rs1489035464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46876011 (GRCh38)
3:46917501 (GRCh37)
Canonical SPDI:: NC_000003.12:46876010:G:A
Gene:: PTH1R (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46876011G>A, NC_000003.11:g.46917501G>A, NG_007555.2:g.11159C>T, NG_008864.1:g.3266G>A

Select item 148894111018.

rs1488941110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:46883082 (GRCh38)
3:46924572 (GRCh37)
Canonical SPDI:: NC_000003.12:46883081:T:C,NC_000003.12:46883081:T:G
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
C=0.078928/215 (KOREAN)
HGVS:: NC_000003.12:g.46883082T>C, NC_000003.12:g.46883082T>G, NC_000003.11:g.46924572T>C, NC_000003.11:g.46924572T>G, NG_007555.2:g.4088A>G, NG_007555.2:g.4088A>C, NG_008864.1:g.10337T>C, NG_008864.1:g.10337T>G

Select item 148891859819.

rs1488918598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:46890652 (GRCh38)
3:46932142 (GRCh37)
Canonical SPDI:: NC_000003.12:46890651:C:A
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46890652C>A, NC_000003.11:g.46932142C>A, NG_008864.1:g.17907C>A

Select item 148889417420.

rs1488894174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:46895153 (GRCh38)
3:46936643 (GRCh37)
Canonical SPDI:: NC_000003.12:46895152:T:C
Gene:: PTH1R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46895153T>C, NC_000003.11:g.46936643T>C, NG_008864.1:g.22408T>C

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