SNP Links for Gene (Select 3283) - SNP

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Select item 14913624771.

rs1491362477 has merged into rs57760949 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:119505969 (GRCh38)
1:120048592 (GRCh37)
Canonical SPDI:: NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:119505955:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSD3B1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2456/1230 (1000Genomes)
HGVS:: NC_000001.11:g.119505969_119505973del, NC_000001.11:g.119505970_119505973del, NC_000001.11:g.119505971_119505973del, NC_000001.11:g.119505972_119505973del, NC_000001.11:g.119505973del, NC_000001.11:g.119505973dup, NC_000001.11:g.119505972_119505973dup, NC_000001.11:g.119505971_119505973dup, NC_000001.11:g.119505970_119505973dup, NC_000001.11:g.119505969_119505973dup, NC_000001.10:g.120048592_120048596del, NC_000001.10:g.120048593_120048596del, NC_000001.10:g.120048594_120048596del, NC_000001.10:g.120048595_120048596del, NC_000001.10:g.120048596del, NC_000001.10:g.120048596dup, NC_000001.10:g.120048595_120048596dup, NC_000001.10:g.120048594_120048596dup, NC_000001.10:g.120048593_120048596dup, NC_000001.10:g.120048592_120048596dup, NG_050909.1:g.3858_3862del, NG_050909.1:g.3859_3862del, NG_050909.1:g.3860_3862del, NG_050909.1:g.3861_3862del, NG_050909.1:g.3862del, NG_050909.1:g.3862dup, NG_050909.1:g.3861_3862dup, NG_050909.1:g.3860_3862dup, NG_050909.1:g.3859_3862dup, NG_050909.1:g.3858_3862dup, NG_052010.1:g.1741_1745del, NG_052010.1:g.1742_1745del, NG_052010.1:g.1743_1745del, NG_052010.1:g.1744_1745del, NG_052010.1:g.1745del, NG_052010.1:g.1745dup, NG_052010.1:g.1744_1745dup, NG_052010.1:g.1743_1745dup, NG_052010.1:g.1742_1745dup, NG_052010.1:g.1741_1745dup

Select item 14913482892.

rs1491348289 has merged into rs71074421 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:119508380 (GRCh38)
1:120051003 (GRCh37)
Canonical SPDI:: NC_000001.11:119508370:AAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:119508370:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:119508370:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:119508370:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:119508370:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:119508370:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:119508370:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.000069/1 (ALFA)
-=0.090455/453 (1000Genomes)
-=0.096898/25648 (TOPMED)
HGVS:: NC_000001.11:g.119508380_119508383del, NC_000001.11:g.119508381_119508383del, NC_000001.11:g.119508382_119508383del, NC_000001.11:g.119508383del, NC_000001.11:g.119508383dup, NC_000001.11:g.119508382_119508383dup, NC_000001.11:g.119508381_119508383dup, NC_000001.10:g.120051003_120051006del, NC_000001.10:g.120051004_120051006del, NC_000001.10:g.120051005_120051006del, NC_000001.10:g.120051006del, NC_000001.10:g.120051006dup, NC_000001.10:g.120051005_120051006dup, NC_000001.10:g.120051004_120051006dup, NG_050909.1:g.6269_6272del, NG_050909.1:g.6270_6272del, NG_050909.1:g.6271_6272del, NG_050909.1:g.6272del, NG_050909.1:g.6272dup, NG_050909.1:g.6271_6272dup, NG_050909.1:g.6270_6272dup

Select item 14912673933.

rs1491267393 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:119505955 (GRCh38)
1:120048578 (GRCh37)
Canonical SPDI:: NC_000001.11:119505954:CA:
Gene:: HSD3B1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.119505955_119505956del, NC_000001.10:g.120048578_120048579del, NG_050909.1:g.3844_3845del, NG_052010.1:g.1727_1728del

Select item 14910047474.

rs1491004747 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:119508384 (GRCh38)
1:120051007 (GRCh37)
Canonical SPDI:: NC_000001.11:119508382:ACA:A
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000166/23 (GnomAD)
HGVS:: NC_000001.11:g.119508384_119508385del, NC_000001.10:g.120051007_120051008del, NG_050909.1:g.6273_6274del

Select item 14908796455.

rs1490879645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:119512453 (GRCh38)
1:120055076 (GRCh37)
Canonical SPDI:: NC_000001.11:119512452:C:A
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.119512453C>A, NC_000001.10:g.120055076C>A, NG_050909.1:g.10342C>A

Select item 14907614596.

rs1490761459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:119506925 (GRCh38)
1:120049548 (GRCh37)
Canonical SPDI:: NC_000001.11:119506924:C:T
Gene:: HSD3B1 (Varview)
Functional Consequence:: 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_000001.11:g.119506925C>T, NC_000001.10:g.120049548C>T, NG_050909.1:g.4814C>T, NG_052010.1:g.2697C>T

Select item 14903361167.

rs1490336116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:119505198 (GRCh38)
1:120047821 (GRCh37)
Canonical SPDI:: NC_000001.11:119505197:T:C
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.119505198T>C, NC_000001.10:g.120047821T>C, NG_050909.1:g.3087T>C, NG_052010.1:g.970T>C

Select item 14896750588.

rs1489675058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:119512975 (GRCh38)
1:120055598 (GRCh37)
Canonical SPDI:: NC_000001.11:119512974:A:G
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.119512975A>G, NC_000001.10:g.120055598A>G, NG_050909.1:g.10864A>G

Select item 14892112589.

rs1489211258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:119514585 (GRCh38)
1:120057208 (GRCh37)
Canonical SPDI:: NC_000001.11:119514584:G:A
Gene:: HSD3B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.119514585G>A, NC_000001.10:g.120057208G>A, NG_050909.1:g.12474G>A, NM_000862.3:c.1062G>A, NM_000862.2:c.1062G>A, NM_001328615.1:c.1062G>A

Select item 148889238210.

rs1488892382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:119514205 (GRCh38)
1:120056828 (GRCh37)
Canonical SPDI:: NC_000001.11:119514204:A:C
Gene:: HSD3B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.119514205A>C, NC_000001.10:g.120056828A>C, NG_050909.1:g.12094A>C, NM_000862.3:c.682A>C, NM_000862.2:c.682A>C, NM_001328615.1:c.682A>C, NP_000853.1:p.Asn228His, NP_001315544.1:p.Asn228His

Select item 148861570711.

rs1488615707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:119506817 (GRCh38)
1:120049440 (GRCh37)
Canonical SPDI:: NC_000001.11:119506816:A:G
Gene:: HSD3B1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.119506817A>G, NC_000001.10:g.120049440A>G, NG_050909.1:g.4706A>G, NG_052010.1:g.2589A>G

Select item 148851234312.

rs1488512343 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:119507782 (GRCh38)
1:120050405 (GRCh37)
Canonical SPDI:: NC_000001.11:119507781:GG:G
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.119507783del, NC_000001.10:g.120050406del, NG_050909.1:g.5672del

Select item 148846149513.

rs1488461495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:119507860 (GRCh38)
1:120050483 (GRCh37)
Canonical SPDI:: NC_000001.11:119507859:C:T
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.119507860C>T, NC_000001.10:g.120050483C>T, NG_050909.1:g.5749C>T

Select item 148827844114.

rs1488278441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:119514346 (GRCh38)
1:120056969 (GRCh37)
Canonical SPDI:: NC_000001.11:119514345:G:C
Gene:: HSD3B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.119514346G>C, NC_000001.10:g.120056969G>C, NG_050909.1:g.12235G>C, NM_000862.3:c.823G>C, NM_000862.2:c.823G>C, NM_001328615.1:c.823G>C, NP_000853.1:p.Glu275Gln, NP_001315544.1:p.Glu275Gln

Select item 148785942615.

rs1487859426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:119508539 (GRCh38)
1:120051162 (GRCh37)
Canonical SPDI:: NC_000001.11:119508538:A:T
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_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_000001.11:g.119508539A>T, NC_000001.10:g.120051162A>T, NG_050909.1:g.6428A>T

Select item 148765226116.

rs1487652261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:119507897 (GRCh38)
1:120050520 (GRCh37)
Canonical SPDI:: NC_000001.11:119507896:T:G
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.119507897T>G, NC_000001.10:g.120050520T>G, NG_050909.1:g.5786T>G

Select item 148753308417.

rs1487533084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:119508759 (GRCh38)
1:120051382 (GRCh37)
Canonical SPDI:: NC_000001.11:119508758:G:A
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.119508759G>A, NC_000001.10:g.120051382G>A, NG_050909.1:g.6648G>A

Select item 148730890918.

rs1487308909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:119510715 (GRCh38)
1:120053338 (GRCh37)
Canonical SPDI:: NC_000001.11:119510714:T:G
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001096/13 (ALFA)
G=0.000321/34 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.119510715T>G, NC_000001.10:g.120053338T>G, NG_050909.1:g.8604T>G

Select item 148728041619.

rs1487280416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:119511991 (GRCh38)
1:120054614 (GRCh37)
Canonical SPDI:: NC_000001.11:119511990:A:G
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.119511991A>G, NC_000001.10:g.120054614A>G, NG_050909.1:g.9880A>G

Select item 148724044420.

rs1487240444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:119513825 (GRCh38)
1:120056448 (GRCh37)
Canonical SPDI:: NC_000001.11:119513824:C:T
Gene:: HSD3B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.119513825C>T, NC_000001.10:g.120056448C>T, NG_050909.1:g.11714C>T

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