SNP Links for Gene (Select 6462) - SNP

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Select item 14914636021.

rs1491463602 has merged into rs907499817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:7624954 (GRCh38)
17:7528272 (GRCh37)
Canonical SPDI:: NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7624943:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHBG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.7624954_7624965del, NC_000017.11:g.7624955_7624965del, NC_000017.11:g.7624956_7624965del, NC_000017.11:g.7624957_7624965del, NC_000017.11:g.7624960_7624965del, NC_000017.11:g.7624961_7624965del, NC_000017.11:g.7624962_7624965del, NC_000017.11:g.7624963_7624965del, NC_000017.11:g.7624964_7624965del, NC_000017.11:g.7624965del, NC_000017.11:g.7624965dup, NC_000017.11:g.7624964_7624965dup, NC_000017.11:g.7624963_7624965dup, NC_000017.11:g.7624962_7624965dup, NC_000017.11:g.7624961_7624965dup, NC_000017.11:g.7624960_7624965dup, NC_000017.11:g.7624959_7624965dup, NC_000017.10:g.7528272_7528283del, NC_000017.10:g.7528273_7528283del, NC_000017.10:g.7528274_7528283del, NC_000017.10:g.7528275_7528283del, NC_000017.10:g.7528278_7528283del, NC_000017.10:g.7528279_7528283del, NC_000017.10:g.7528280_7528283del, NC_000017.10:g.7528281_7528283del, NC_000017.10:g.7528282_7528283del, NC_000017.10:g.7528283del, NC_000017.10:g.7528283dup, NC_000017.10:g.7528282_7528283dup, NC_000017.10:g.7528281_7528283dup, NC_000017.10:g.7528280_7528283dup, NC_000017.10:g.7528279_7528283dup, NC_000017.10:g.7528278_7528283dup, NC_000017.10:g.7528277_7528283dup, NG_011981.2:g.15891_15902del, NG_011981.2:g.15892_15902del, NG_011981.2:g.15893_15902del, NG_011981.2:g.15894_15902del, NG_011981.2:g.15897_15902del, NG_011981.2:g.15898_15902del, NG_011981.2:g.15899_15902del, NG_011981.2:g.15900_15902del, NG_011981.2:g.15901_15902del, NG_011981.2:g.15902del, NG_011981.2:g.15902dup, NG_011981.2:g.15901_15902dup, NG_011981.2:g.15900_15902dup, NG_011981.2:g.15899_15902dup, NG_011981.2:g.15898_15902dup, NG_011981.2:g.15897_15902dup, NG_011981.2:g.15896_15902dup

Select item 14913683692.

rs1491368369 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:7615658 (GRCh38)
17:7518977 (GRCh37)
Canonical SPDI:: NC_000017.11:7615658::G
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.7615658_7615659insG, NC_000017.10:g.7518976_7518977insG, NG_011981.2:g.6595_6596insG, NG_028105.1:g.4239_4240insC

Select item 14912200333.

rs1491220033 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:7624944 (GRCh38)
17:7528263 (GRCh37)
Canonical SPDI:: NC_000017.11:7624944::C
Gene:: SHBG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
C=0.00004/4 (GnomAD)
HGVS:: NC_000017.11:g.7624944_7624945insC, NC_000017.10:g.7528262_7528263insC, NG_011981.2:g.15881_15882insC

Select item 14911968254.

rs1491196825 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 17:7615659 (GRCh38)
17:7518977 (GRCh37)
Canonical SPDI:: NC_000017.11:7615657:CAC:C
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0011/13 (ALFA)
-=0.00014/4 (TOMMO)
HGVS:: NC_000017.11:g.7615659_7615660del, NC_000017.10:g.7518977_7518978del, NG_011981.2:g.6596_6597del, NG_028105.1:g.4239_4240del

Select item 14910359305.

rs1491035930 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:7615657 (GRCh38)
17:7518976 (GRCh37)
Canonical SPDI:: NC_000017.11:7615657::A
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/3 (GnomAD)
HGVS:: NC_000017.11:g.7615657_7615658insA, NC_000017.10:g.7518975_7518976insA, NG_011981.2:g.6594_6595insA, NG_028105.1:g.4240_4241insT

Select item 14910039986.

rs1491003998 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:7613768 (GRCh38)
17:7517086 (GRCh37)
Canonical SPDI:: NC_000017.11:7613767:AA:A
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7613769del, NC_000017.10:g.7517087del, NG_011981.2:g.4706del, NG_028105.1:g.6130del

Select item 14906969517.

rs1490696951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:7630170 (GRCh38)
17:7533488 (GRCh37)
Canonical SPDI:: NC_000017.11:7630169:A:G,NC_000017.11:7630169:A:T
Gene:: SHBG (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00005/1 (ALFA)
G=0.00546/10 (Korea1K)
HGVS:: NC_000017.11:g.7630170A>G, NC_000017.11:g.7630170A>T, NC_000017.10:g.7533488A>G, NC_000017.10:g.7533488A>T, NG_011981.2:g.21107A>G, NG_011981.2:g.21107A>T, NM_001040.5:c.-3A>G, NM_001040.5:c.-3A>T, NM_001040.4:c.-3A>G, NM_001040.4:c.-3A>T, NM_001040.3:c.-3A>G, NM_001040.3:c.-3A>T, NM_001146279.3:c.-3A>G, NM_001146279.3:c.-3A>T, NM_001146279.2:c.-3A>G, NM_001146279.2:c.-3A>T, NM_001146279.1:c.-3A>G, NM_001146279.1:c.-3A>T, NM_001146280.3:c.-3A>G, NM_001146280.3:c.-3A>T, NM_001146280.2:c.-3A>G, NM_001146280.2:c.-3A>T, NM_001146280.1:c.-3A>G, NM_001146280.1:c.-3A>T, NM_001146281.3:c.-3A>G, NM_001146281.3:c.-3A>T, NM_001146281.2:c.-3A>G, NM_001146281.2:c.-3A>T, NM_001146281.1:c.-3A>G, NM_001146281.1:c.-3A>T, NM_001289116.2:c.-259A>G, NM_001289116.2:c.-259A>T, NM_001289116.1:c.-259A>G, NM_001289116.1:c.-259A>T

Select item 14905643188.

rs1490564318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7627355 (GRCh38)
17:7530673 (GRCh37)
Canonical SPDI:: NC_000017.11:7627354:G:A
Gene:: SHBG (Varview), SAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7627355G>A, NC_000017.10:g.7530673G>A, NG_011981.2:g.18292G>A

Select item 14905419359.

rs1490541935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:7613571 (GRCh38)
17:7516889 (GRCh37)
Canonical SPDI:: NC_000017.11:7613570:G:A,NC_000017.11:7613570:G:C,NC_000017.11:7613570:G:T
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7613571G>A, NC_000017.11:g.7613571G>C, NC_000017.11:g.7613571G>T, NC_000017.10:g.7516889G>A, NC_000017.10:g.7516889G>C, NC_000017.10:g.7516889G>T, NG_011981.2:g.4508G>A, NG_011981.2:g.4508G>C, NG_011981.2:g.4508G>T, NG_028105.1:g.6327C>T, NG_028105.1:g.6327C>G, NG_028105.1:g.6327C>A

Select item 149051603210.

rs1490516032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7612676 (GRCh38)
17:7515994 (GRCh37)
Canonical SPDI:: NC_000017.11:7612675:A:G
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7612676A>G, NC_000017.10:g.7515994A>G, NG_011981.2:g.3613A>G, NG_028105.1:g.7222T>C

Select item 149049412111.

rs1490494121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7614860 (GRCh38)
17:7518178 (GRCh37)
Canonical SPDI:: NC_000017.11:7614859:C:T
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_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_000017.11:g.7614860C>T, NC_000017.10:g.7518178C>T, NG_011981.2:g.5797C>T, NG_028105.1:g.5038G>A, NM_004860.4:c.-328G>A, NM_004860.3:c.-328G>A, XM_047437106.1:c.-328G>A

Select item 149004772712.

rs1490047727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7624780 (GRCh38)
17:7528098 (GRCh37)
Canonical SPDI:: NC_000017.11:7624779:T:A
Gene:: SHBG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7624780T>A, NC_000017.10:g.7528098T>A, NG_011981.2:g.15717T>A

Select item 148998707013.

rs1489987070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7631161 (GRCh38)
17:7534479 (GRCh37)
Canonical SPDI:: NC_000017.11:7631160:T:A
Gene:: SHBG (Varview)
Functional Consequence:: intron_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_000017.11:g.7631161T>A, NC_000017.10:g.7534479T>A, NG_011981.2:g.22098T>A

Select item 148987827014.

rs1489878270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7633473 (GRCh38)
17:7536791 (GRCh37)
Canonical SPDI:: NC_000017.11:7633472:A:G
Gene:: SHBG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7633473A>G, NC_000017.10:g.7536791A>G, NG_011981.2:g.24410A>G

Select item 148975123415.

rs1489751234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7617498 (GRCh38)
17:7520816 (GRCh37)
Canonical SPDI:: NC_000017.11:7617497:G:T
Gene:: SHBG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000017.11:g.7617498G>T, NC_000017.10:g.7520816G>T, NG_011981.2:g.8435G>T, NG_028105.1:g.2400C>A

Select item 148963293116.

rs1489632931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7632063 (GRCh38)
17:7535381 (GRCh37)
Canonical SPDI:: NC_000017.11:7632062:C:A
Gene:: SHBG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.7632063C>A, NC_000017.10:g.7535381C>A, NG_011981.2:g.23000C>A

Select item 148946994717.

rs1489469947 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 17:7621094 (GRCh38)
17:7524412 (GRCh37)
Canonical SPDI:: NC_000017.11:7621092:ACAA:A
Gene:: SHBG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00126/15 (ALFA)
-=0.00149/23 (TOMMO)
HGVS:: NC_000017.11:g.7621094_7621096del, NC_000017.10:g.7524412_7524414del, NG_011981.2:g.12031_12033del, NG_034181.1:g.56_58del

Select item 148946288118.

rs1489462881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:7628967 (GRCh38)
17:7532285 (GRCh37)
Canonical SPDI:: NC_000017.11:7628966:A:C,NC_000017.11:7628966:A:T
Gene:: SHBG (Varview), SAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7628967A>C, NC_000017.11:g.7628967A>T, NC_000017.10:g.7532285A>C, NC_000017.10:g.7532285A>T, NG_011981.2:g.19904A>C, NG_011981.2:g.19904A>T

Select item 148939147919.

rs1489391479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7628002 (GRCh38)
17:7531320 (GRCh37)
Canonical SPDI:: NC_000017.11:7628001:A:G
Gene:: SHBG (Varview), SAT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.7628002A>G, NC_000017.10:g.7531320A>G, NG_011981.2:g.18939A>G, NM_001289113.2:c.-213A>G, NM_001289113.1:c.-213A>G, NM_001289115.2:c.-213A>G, NM_001289115.1:c.-213A>G, NR_027462.1:n.34A>G

Select item 148934401420.

rs1489344014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7615154 (GRCh38)
17:7518472 (GRCh37)
Canonical SPDI:: NC_000017.11:7615153:G:A
Gene:: SHBG (Varview), FXR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_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_000017.11:g.7615154G>A, NC_000017.10:g.7518472G>A, NG_011981.2:g.6091G>A, NG_028105.1:g.4744C>T

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