SNP Links for Gene (Select 80270) - SNP

Links from Gene

Items: 1 to 20 of 1927

<< First< Prev

Page of 97

Next >Last >>

Select item 14912155121.

rs1491215512 has merged into rs786200876 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:30985703 (GRCh38)
16:30997024 (GRCh37)
Canonical SPDI:: NC_000016.10:30985702:AG:
Gene:: HSD3B7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000021/2 (ExAC)
-=0.000037/9 (GnomAD_exomes)
-=0.000053/14 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000016.10:g.30985703_30985704del, NC_000016.9:g.30997024_30997025del, NG_052948.1:g.33410_33411del, NG_012346.1:g.5506_5507del, NM_025193.4:c.45_46del, NM_025193.3:c.45_46del, NM_001142777.2:c.45_46del, NM_001142777.1:c.45_46del, NM_001142778.2:c.45_46del, NM_001142778.1:c.45_46del, XM_005255601.4:c.45_46del, XM_005255601.3:c.45_46del, XM_005255601.2:c.348_349del, XM_005255601.1:c.348_349del, XM_011545960.3:c.45_46del, XM_011545960.2:c.45_46del, XM_011545960.1:c.45_46del, XM_011545962.3:c.45_46del, XM_011545962.2:c.45_46del, XM_011545962.1:c.45_46del, XM_011545961.2:c.45_46del, XM_011545961.1:c.45_46del, XM_017023732.2:c.45_46del, XM_017023732.1:c.45_46del, XM_047434716.1:c.45_46del, NP_079469.2:p.Gly17fs, NP_001136249.1:p.Gly17fs, NP_001136250.1:p.Gly17fs, XP_005255658.2:p.Gly17fs, XP_011544262.1:p.Gly17fs, XP_011544264.1:p.Gly17fs, XP_011544263.1:p.Gly17fs, XP_016879221.1:p.Gly17fs, XP_047290672.1:p.Gly17fs

Select item 14904036372.

rs1490403637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:30988221 (GRCh38)
16:30999542 (GRCh37)
Canonical SPDI:: NC_000016.10:30988220:T:A,NC_000016.10:30988220:T:C
Gene:: HSD3B7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30988221T>A, NC_000016.10:g.30988221T>C, NC_000016.9:g.30999542T>A, NC_000016.9:g.30999542T>C, NG_041829.1:g.27288A>T, NG_041829.1:g.27288A>G, NG_012346.1:g.8024T>A, NG_012346.1:g.8024T>C, NM_025193.4:c.*38T>A, NM_025193.4:c.*38T>C, NM_025193.3:c.*38T>A, NM_025193.3:c.*38T>C, NM_001142777.2:c.*394T>A, NM_001142777.2:c.*394T>C, NM_001142777.1:c.*394T>A, NM_001142777.1:c.*394T>C, NM_001142778.2:c.*394T>A, NM_001142778.2:c.*394T>C, NM_001142778.1:c.*394T>A, NM_001142778.1:c.*394T>C, XM_005255601.4:c.*38T>A, XM_005255601.4:c.*38T>C, XM_005255601.3:c.*38T>A, XM_005255601.3:c.*38T>C, XM_005255601.2:c.*38T>A, XM_005255601.2:c.*38T>C, XM_005255601.1:c.*38T>A, XM_005255601.1:c.*38T>C, XM_011545960.3:c.*38T>A, XM_011545960.3:c.*38T>C, XM_011545960.2:c.*38T>A, XM_011545960.2:c.*38T>C, XM_011545960.1:c.*38T>A, XM_011545960.1:c.*38T>C, XM_011545962.3:c.*394T>A, XM_011545962.3:c.*394T>C, XM_011545962.2:c.*394T>A, XM_011545962.2:c.*394T>C, XM_011545961.2:c.*38T>A, XM_011545961.2:c.*38T>C, XM_011545961.1:c.*38T>A, XM_011545961.1:c.*38T>C, XM_017023732.2:c.*394T>A, XM_017023732.2:c.*394T>C, XM_017023732.1:c.*394T>A, XM_017023732.1:c.*394T>C, XM_047434716.1:c.*38T>A, XM_047434716.1:c.*38T>C

Select item 14900106013.

rs1490010601 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14899430184.

rs1489943018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30989259 (GRCh38)
16:31000580 (GRCh37)
Canonical SPDI:: NC_000016.10:30989258:G:A
Gene:: HSD3B7 (Varview), STX1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
A=0.000344/1 (KOREAN)
HGVS:: NC_000016.10:g.30989259G>A, NC_000016.9:g.31000580G>A, NG_041829.1:g.26250C>T, NM_052874.5:c.*3562C>T, NM_052874.4:c.*3562C>T, NM_052874.3:c.*3562C>T, NG_012346.1:g.9062G>A, XM_017022893.2:c.*3562C>T, XM_017022893.1:c.*3562C>T

Select item 14899115795.

rs1489911579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30988010 (GRCh38)
16:30999331 (GRCh37)
Canonical SPDI:: NC_000016.10:30988009:G:A
Gene:: HSD3B7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
HGVS:: NC_000016.10:g.30988010G>A, NC_000016.9:g.30999331G>A, NG_041829.1:g.27499C>T, NG_012346.1:g.7813G>A, NM_025193.4:c.937G>A, NM_025193.3:c.937G>A, NM_001142777.2:c.*183G>A, NM_001142777.1:c.*183G>A, NM_001142778.2:c.*183G>A, NM_001142778.1:c.*183G>A, XM_005255601.4:c.937G>A, XM_005255601.3:c.937G>A, XM_005255601.2:c.1240G>A, XM_005255601.1:c.1240G>A, XM_011545960.3:c.937G>A, XM_011545960.2:c.937G>A, XM_011545960.1:c.937G>A, XM_011545962.3:c.*183G>A, XM_011545962.2:c.*183G>A, XM_011545961.2:c.937G>A, XM_011545961.1:c.937G>A, XM_017023732.2:c.*183G>A, XM_017023732.1:c.*183G>A, XM_047434716.1:c.937G>A, NP_079469.2:p.Val313Met, XP_005255658.2:p.Val313Met, XP_011544262.1:p.Val313Met, XP_011544263.1:p.Val313Met, XP_047290672.1:p.Val313Met

Select item 14897818926.

rs1489781892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30985180 (GRCh38)
16:30996501 (GRCh37)
Canonical SPDI:: NC_000016.10:30985179:A:G
Gene:: HSD3B7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
G=0.000083/22 (TOPMED)
G=0.001093/2 (Korea1K)
HGVS:: NC_000016.10:g.30985180A>G, NC_000016.9:g.30996501A>G, NG_052948.1:g.32887A>G, NG_012346.1:g.4983A>G

Select item 14893807727.

rs1489380772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30988892 (GRCh38)
16:31000213 (GRCh37)
Canonical SPDI:: NC_000016.10:30988891:G:A
Gene:: HSD3B7 (Varview), STX1B (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000531/9 (TOMMO)
HGVS:: NC_000016.10:g.30988892G>A, NC_000016.9:g.31000213G>A, NG_041829.1:g.26617C>T, NG_012346.1:g.8695G>A, NM_025193.4:c.*709G>A, NM_025193.3:c.*709G>A, NM_001142777.2:c.*1065G>A, NM_001142777.1:c.*1065G>A, NM_001142778.2:c.*1065G>A, NM_001142778.1:c.*1065G>A, XM_005255601.4:c.*709G>A, XM_005255601.3:c.*709G>A, XM_005255601.2:c.*709G>A, XM_005255601.1:c.*709G>A, XM_011545960.3:c.*709G>A, XM_011545960.2:c.*709G>A, XM_011545960.1:c.*709G>A, XM_011545962.3:c.*1065G>A, XM_011545962.2:c.*1065G>A, XM_011545961.2:c.*709G>A, XM_011545961.1:c.*709G>A, XM_017023732.2:c.*1065G>A, XM_017023732.1:c.*1065G>A, XM_047434716.1:c.*709G>A

Select item 14890534038.

rs1489053403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30987053 (GRCh38)
16:30998374 (GRCh37)
Canonical SPDI:: NC_000016.10:30987052:G:T
Gene:: HSD3B7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30987053G>T, NC_000016.9:g.30998374G>T, NG_012346.1:g.6856G>T

Select item 14890232399.

rs1489023239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30986230 (GRCh38)
16:30997551 (GRCh37)
Canonical SPDI:: NC_000016.10:30986229:C:T
Gene:: HSD3B7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.30986230C>T, NC_000016.9:g.30997551C>T, NG_052948.1:g.33937C>T, NG_012346.1:g.6033C>T

Select item 148892365510.

rs1488923655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30984842 (GRCh38)
16:30996163 (GRCh37)
Canonical SPDI:: NC_000016.10:30984841:G:T
Gene:: SETD1A (Varview), HSD3B7 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_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_000016.10:g.30984842G>T, NC_000016.9:g.30996163G>T, NG_052948.1:g.32549G>T, NG_012346.1:g.4645G>T

Select item 148892316911.

rs1488923169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30983272 (GRCh38)
16:30994593 (GRCh37)
Canonical SPDI:: NC_000016.10:30983271:C:T
Gene:: SETD1A (Varview), HSD3B7 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30983272C>T, NC_000016.9:g.30994593C>T, NG_052948.1:g.30979C>T, NG_012346.1:g.3075C>T

Select item 148844268612.

rs1488442686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:30985091 (GRCh38)
16:30996412 (GRCh37)
Canonical SPDI:: NC_000016.10:30985090:A:G,NC_000016.10:30985090:A:T
Gene:: SETD1A (Varview), HSD3B7 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.30985091A>G, NC_000016.10:g.30985091A>T, NC_000016.9:g.30996412A>G, NC_000016.9:g.30996412A>T, NG_052948.1:g.32798A>G, NG_052948.1:g.32798A>T, NG_012346.1:g.4894A>G, NG_012346.1:g.4894A>T

Select item 148804143413.

rs1488041434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30984088 (GRCh38)
16:30995409 (GRCh37)
Canonical SPDI:: NC_000016.10:30984087:C:T
Gene:: SETD1A (Varview), HSD3B7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_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_000016.10:g.30984088C>T, NC_000016.9:g.30995409C>T, NG_052948.1:g.31795C>T, NM_014712.3:c.*65C>T, NM_014712.2:c.*65C>T, NM_014712.1:c.*65C>T, NG_012346.1:g.3891C>T, XM_006721106.4:c.*65C>T, XM_006721106.3:c.*65C>T, XM_006721106.2:c.*65C>T, XM_006721106.1:c.*65C>T, XM_017023909.2:c.*65C>T, XM_017023909.1:c.*65C>T, XM_024450499.2:c.*65C>T, XM_024450499.1:c.*65C>T, XM_005255723.1:c.*65C>T, XM_047434962.1:c.*65C>T, XM_047434963.1:c.*65C>T

Select item 148728748414.

rs1487287484 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTCTGCACCCCCAGTCCTGGGGA [Show Flanks]
Chromosome:: 16:30984443 (GRCh38)
16:30995765 (GRCh37)
Canonical SPDI:: NC_000016.10:30984443:GGCTCTGCACCCCCAGTCCTGGGGA:GGCTCTGCACCCCCAGTCCTGGGGAGGCTCTGCACCCCCAGTCCTGGGGA
Gene:: SETD1A (Varview), HSD3B7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: GGCTCTGCACCCCCAGTCCTGGGGA=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30984444_30984468dup, NC_000016.9:g.30995765_30995789dup, NG_052948.1:g.32151_32175dup, NM_014712.3:c.*421_*445dup, NM_014712.2:c.*421_*445dup, NM_014712.1:c.*421_*445dup, NG_012346.1:g.4247_4271dup, XM_006721106.4:c.*421_*445dup, XM_006721106.3:c.*421_*445dup, XM_006721106.2:c.*421_*445dup, XM_006721106.1:c.*421_*445dup, XM_017023909.2:c.*421_*445dup, XM_017023909.1:c.*421_*445dup, XM_024450499.2:c.*421_*445dup, XM_024450499.1:c.*421_*445dup, XM_005255723.1:c.*421_*445dup, XM_047434962.1:c.*421_*445dup, XM_047434963.1:c.*421_*445dup

Select item 148709167515.

rs1487091675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30986401 (GRCh38)
16:30997722 (GRCh37)
Canonical SPDI:: NC_000016.10:30986400:G:A
Gene:: HSD3B7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30986401G>A, NC_000016.9:g.30997722G>A, NG_052948.1:g.34108G>A, NG_012346.1:g.6204G>A

Select item 148706301216.

rs1487063012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30985711 (GRCh38)
16:30997032 (GRCh37)
Canonical SPDI:: NC_000016.10:30985710:G:A,NC_000016.10:30985710:G:T
Gene:: HSD3B7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30985711G>A, NC_000016.10:g.30985711G>T, NC_000016.9:g.30997032G>A, NC_000016.9:g.30997032G>T, NG_052948.1:g.33418G>A, NG_052948.1:g.33418G>T, NG_012346.1:g.5514G>A, NG_012346.1:g.5514G>T, NM_025193.4:c.53G>A, NM_025193.4:c.53G>T, NM_025193.3:c.53G>A, NM_025193.3:c.53G>T, NM_001142777.2:c.53G>A, NM_001142777.2:c.53G>T, NM_001142777.1:c.53G>A, NM_001142777.1:c.53G>T, NM_001142778.2:c.53G>A, NM_001142778.2:c.53G>T, NM_001142778.1:c.53G>A, NM_001142778.1:c.53G>T, XM_005255601.4:c.53G>A, XM_005255601.4:c.53G>T, XM_005255601.3:c.53G>A, XM_005255601.3:c.53G>T, XM_005255601.2:c.356G>A, XM_005255601.2:c.356G>T, XM_005255601.1:c.356G>A, XM_005255601.1:c.356G>T, XM_011545960.3:c.53G>A, XM_011545960.3:c.53G>T, XM_011545960.2:c.53G>A, XM_011545960.2:c.53G>T, XM_011545960.1:c.53G>A, XM_011545960.1:c.53G>T, XM_011545962.3:c.53G>A, XM_011545962.3:c.53G>T, XM_011545962.2:c.53G>A, XM_011545962.2:c.53G>T, XM_011545962.1:c.53G>A, XM_011545962.1:c.53G>T, XM_011545961.2:c.53G>A, XM_011545961.2:c.53G>T, XM_011545961.1:c.53G>A, XM_011545961.1:c.53G>T, XM_017023732.2:c.53G>A, XM_017023732.2:c.53G>T, XM_017023732.1:c.53G>A, XM_017023732.1:c.53G>T, XM_047434716.1:c.53G>A, XM_047434716.1:c.53G>T, NP_079469.2:p.Cys18Tyr, NP_079469.2:p.Cys18Phe, NP_001136249.1:p.Cys18Tyr, NP_001136249.1:p.Cys18Phe, NP_001136250.1:p.Cys18Tyr, NP_001136250.1:p.Cys18Phe, XP_005255658.2:p.Cys18Tyr, XP_005255658.2:p.Cys18Phe, XP_011544262.1:p.Cys18Tyr, XP_011544262.1:p.Cys18Phe, XP_011544264.1:p.Cys18Tyr, XP_011544264.1:p.Cys18Phe, XP_011544263.1:p.Cys18Tyr, XP_011544263.1:p.Cys18Phe, XP_016879221.1:p.Cys18Tyr, XP_016879221.1:p.Cys18Phe, XP_047290672.1:p.Cys18Tyr, XP_047290672.1:p.Cys18Phe

Select item 148681314617.

rs1486813146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30985654 (GRCh38)
16:30996975 (GRCh37)
Canonical SPDI:: NC_000016.10:30985653:C:T
Gene:: HSD3B7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30985654C>T, NC_000016.9:g.30996975C>T, NG_052948.1:g.33361C>T, NG_012346.1:g.5457C>T, NM_025193.4:c.-5C>T, NM_025193.3:c.-5C>T, NM_001142777.2:c.-5C>T, NM_001142777.1:c.-5C>T, NM_001142778.2:c.-5C>T, NM_001142778.1:c.-5C>T, XM_011545960.3:c.-5C>T, XM_011545960.2:c.-5C>T, XM_011545960.1:c.-5C>T, XM_011545961.2:c.-5C>T, XM_011545961.1:c.-5C>T, XM_017023732.2:c.-5C>T, XM_017023732.1:c.-5C>T, XM_047434716.1:c.-5C>T

Select item 148588746018.

rs1485887460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30984322 (GRCh38)
16:30995643 (GRCh37)
Canonical SPDI:: NC_000016.10:30984321:T:C
Gene:: SETD1A (Varview), HSD3B7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000016.10:g.30984322T>C, NC_000016.9:g.30995643T>C, NG_052948.1:g.32029T>C, NM_014712.3:c.*299T>C, NM_014712.2:c.*299T>C, NM_014712.1:c.*299T>C, NG_012346.1:g.4125T>C, XM_006721106.4:c.*299T>C, XM_006721106.3:c.*299T>C, XM_006721106.2:c.*299T>C, XM_006721106.1:c.*299T>C, XM_017023909.2:c.*299T>C, XM_017023909.1:c.*299T>C, XM_024450499.2:c.*299T>C, XM_024450499.1:c.*299T>C, XM_005255723.1:c.*299T>C, XM_047434962.1:c.*299T>C, XM_047434963.1:c.*299T>C

Select item 148519328519.

rs1485193285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30985899 (GRCh38)
16:30997220 (GRCh37)
Canonical SPDI:: NC_000016.10:30985898:C:T
Gene:: HSD3B7 (Varview)
Functional Consequence:: 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_000016.10:g.30985899C>T, NC_000016.9:g.30997220C>T, NG_052948.1:g.33606C>T, NG_012346.1:g.5702C>T

Select item 148481318620.

rs1484813186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30986329 (GRCh38)
16:30997650 (GRCh37)
Canonical SPDI:: NC_000016.10:30986328:G:C
Gene:: HSD3B7 (Varview)
Functional Consequence:: intron_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_000016.10:g.30986329G>C, NC_000016.9:g.30997650G>C, NG_052948.1:g.34036G>C, NG_012346.1:g.6132G>C

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1927

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity