SNP Links for Gene (Select 3291) - SNP

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Items: 1 to 20 of 2263

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Select item 14915164141.

rs1491516414 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,C [Show Flanks]
Chromosome:: 16:67432259 (GRCh38)
16:67466163 (GRCh37)
Canonical SPDI:: NC_000016.10:67432259::AG,NC_000016.10:67432259::C
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.67432259_67432260insAG, NC_000016.10:g.67432259_67432260insC, NC_000016.9:g.67466162_67466163insAG, NC_000016.9:g.67466162_67466163insC, NG_016549.1:g.6127_6128insAG, NG_016549.1:g.6127_6128insC

Select item 14914363802.

rs1491436380 has merged into rs35257037 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 16:67432269 (GRCh38)
16:67466172 (GRCh37)
Canonical SPDI:: NC_000016.10:67432259:GGGGGGGGGGGG:GGGGGGGGG,NC_000016.10:67432259:GGGGGGGGGGGG:GGGGGGGGGG,NC_000016.10:67432259:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000016.10:67432259:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000016.10:67432259:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000016.10:67432259:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000016.10:67432259:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.38889/14 (GENOME_DK)
HGVS:: NC_000016.10:g.67432269_67432271del, NC_000016.10:g.67432270_67432271del, NC_000016.10:g.67432271del, NC_000016.10:g.67432271dup, NC_000016.10:g.67432270_67432271dup, NC_000016.10:g.67432269_67432271dup, NC_000016.10:g.67432268_67432271dup, NC_000016.9:g.67466172_67466174del, NC_000016.9:g.67466173_67466174del, NC_000016.9:g.67466174del, NC_000016.9:g.67466174dup, NC_000016.9:g.67466173_67466174dup, NC_000016.9:g.67466172_67466174dup, NC_000016.9:g.67466171_67466174dup, NG_016549.1:g.6137_6139del, NG_016549.1:g.6138_6139del, NG_016549.1:g.6139del, NG_016549.1:g.6139dup, NG_016549.1:g.6138_6139dup, NG_016549.1:g.6137_6139dup, NG_016549.1:g.6136_6139dup

Select item 14913214713.

rs1491321471 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:67432259 (GRCh38)
16:67466162 (GRCh37)
Canonical SPDI:: NC_000016.10:67432258:AG:
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000113/12 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.67432259_67432260del, NC_000016.9:g.67466162_67466163del, NG_016549.1:g.6127_6128del

Select item 14911940994.

rs1491194099 has merged into rs34076422 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 16:67433730 (GRCh38)
16:67467633 (GRCh37)
Canonical SPDI:: NC_000016.10:67433727:ATAT:AT,NC_000016.10:67433727:ATAT:ATATAT
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.00046/8 (TOMMO)
-=0.03167/19 (NorthernSweden)
-=0.05475/211 (ALSPAC)
-=0.06446/239 (TWINSUK)
HGVS:: NC_000016.10:g.67433728AT[1], NC_000016.10:g.67433728AT[3], NC_000016.9:g.67467631AT[1], NC_000016.9:g.67467631AT[3], NG_016549.1:g.7596AT[1], NG_016549.1:g.7596AT[3]

Select item 14908969435.

rs1490896943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67429624 (GRCh38)
16:67463527 (GRCh37)
Canonical SPDI:: NC_000016.10:67429623:T:C
Gene:: HSD11B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.67429624T>C, NC_000016.9:g.67463527T>C, NG_016549.1:g.3492T>C

Select item 14908780056.

rs1490878005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:67435186 (GRCh38)
16:67469089 (GRCh37)
Canonical SPDI:: NC_000016.10:67435185:G:A,NC_000016.10:67435185:G:C,NC_000016.10:67435185:G:T
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.67435186G>A, NC_000016.10:g.67435186G>C, NC_000016.10:g.67435186G>T, NC_000016.9:g.67469089G>A, NC_000016.9:g.67469089G>C, NC_000016.9:g.67469089G>T, NG_016549.1:g.9054G>A, NG_016549.1:g.9054G>C, NG_016549.1:g.9054G>T

Select item 14904613347.

rs1490461334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:67431040 (GRCh38)
16:67464943 (GRCh37)
Canonical SPDI:: NC_000016.10:67431039:G:A,NC_000016.10:67431039:G:C
Gene:: HSD11B2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67431040G>A, NC_000016.10:g.67431040G>C, NC_000016.9:g.67464943G>A, NC_000016.9:g.67464943G>C, NG_016549.1:g.4908G>A, NG_016549.1:g.4908G>C

Select item 14904107318.

rs1490410731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67430168 (GRCh38)
16:67464071 (GRCh37)
Canonical SPDI:: NC_000016.10:67430167:C:G
Gene:: HSD11B2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000016.10:g.67430168C>G, NC_000016.9:g.67464071C>G, NG_016549.1:g.4036C>G

Select item 14901233769.

rs1490123376 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 16:67435989 (GRCh38)
16:67469892 (GRCh37)
Canonical SPDI:: NC_000016.10:67435988:AA:A
Gene:: HSD11B2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67435990del, NC_000016.9:g.67469893del, NG_016549.1:g.9858del, NM_000196.4:c.512del, NM_000196.3:c.512del, XM_047434048.1:c.200del, NP_000187.3:p.Asn171fs, XP_047290004.1:p.Asn67fs

Select item 149000933710.

rs1490009337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67435723 (GRCh38)
16:67469626 (GRCh37)
Canonical SPDI:: NC_000016.10:67435722:G:A
Gene:: HSD11B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.67435723G>A, NC_000016.9:g.67469626G>A, NG_016549.1:g.9591G>A, NM_000196.4:c.361G>A, NM_000196.3:c.361G>A, XM_047434048.1:c.49G>A, NP_000187.3:p.Ala121Thr, XP_047290004.1:p.Ala17Thr

Select item 148982114011.

rs1489821140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67436947 (GRCh38)
16:67470850 (GRCh37)
Canonical SPDI:: NC_000016.10:67436946:G:A
Gene:: HSD11B2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.67436947G>A, NC_000016.9:g.67470850G>A, NG_011482.1:g.49240C>T, NG_016549.1:g.10815G>A, NM_000196.4:c.1162G>A, NM_000196.3:c.1162G>A, XM_047434048.1:c.850G>A, NP_000187.3:p.Asp388Asn, XP_047290004.1:p.Asp284Asn

Select item 148973431012.

rs1489734310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67431428 (GRCh38)
16:67465331 (GRCh37)
Canonical SPDI:: NC_000016.10:67431427:G:A
Gene:: HSD11B2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67431428G>A, NC_000016.9:g.67465331G>A, NG_016549.1:g.5296G>A, NM_000196.4:c.180G>A, NM_000196.3:c.180G>A

Select item 148969500713.

rs1489695007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:67430417 (GRCh38)
16:67464320 (GRCh37)
Canonical SPDI:: NC_000016.10:67430416:G:A,NC_000016.10:67430416:G:C
Gene:: HSD11B2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67430417G>A, NC_000016.10:g.67430417G>C, NC_000016.9:g.67464320G>A, NC_000016.9:g.67464320G>C, NG_016549.1:g.4285G>A, NG_016549.1:g.4285G>C

Select item 148968194014.

rs1489681940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:67430652 (GRCh38)
16:67464555 (GRCh37)
Canonical SPDI:: NC_000016.10:67430651:C:A,NC_000016.10:67430651:C:T
Gene:: HSD11B2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_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.67430652C>A, NC_000016.10:g.67430652C>T, NC_000016.9:g.67464555C>A, NC_000016.9:g.67464555C>T, NG_016549.1:g.4520C>A, NG_016549.1:g.4520C>T

Select item 148860581315.

rs1488605813 has merged into rs61663548 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:67435211 (GRCh38)
16:67469114 (GRCh37)
Canonical SPDI:: NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67435202:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.67435211_67435222del, NC_000016.10:g.67435213_67435222del, NC_000016.10:g.67435216_67435222del, NC_000016.10:g.67435217_67435222del, NC_000016.10:g.67435219_67435222del, NC_000016.10:g.67435220_67435222del, NC_000016.10:g.67435221_67435222del, NC_000016.10:g.67435222del, NC_000016.10:g.67435222dup, NC_000016.10:g.67435221_67435222dup, NC_000016.10:g.67435220_67435222dup, NC_000016.10:g.67435219_67435222dup, NC_000016.9:g.67469114_67469125del, NC_000016.9:g.67469116_67469125del, NC_000016.9:g.67469119_67469125del, NC_000016.9:g.67469120_67469125del, NC_000016.9:g.67469122_67469125del, NC_000016.9:g.67469123_67469125del, NC_000016.9:g.67469124_67469125del, NC_000016.9:g.67469125del, NC_000016.9:g.67469125dup, NC_000016.9:g.67469124_67469125dup, NC_000016.9:g.67469123_67469125dup, NC_000016.9:g.67469122_67469125dup, NG_016549.1:g.9079_9090del, NG_016549.1:g.9081_9090del, NG_016549.1:g.9084_9090del, NG_016549.1:g.9085_9090del, NG_016549.1:g.9087_9090del, NG_016549.1:g.9088_9090del, NG_016549.1:g.9089_9090del, NG_016549.1:g.9090del, NG_016549.1:g.9090dup, NG_016549.1:g.9089_9090dup, NG_016549.1:g.9088_9090dup, NG_016549.1:g.9087_9090dup

Select item 148824830516.

rs1488248305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67437141 (GRCh38)
16:67471044 (GRCh37)
Canonical SPDI:: NC_000016.10:67437140:C:T
Gene:: HSD11B2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.67437141C>T, NC_000016.9:g.67471044C>T, NG_011482.1:g.49046G>A, NG_016549.1:g.11009C>T, NM_000196.4:c.*138C>T, NM_000196.3:c.*138C>T, XM_047434048.1:c.*138C>T

Select item 148824076417.

rs1488240764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67435918 (GRCh38)
16:67469821 (GRCh37)
Canonical SPDI:: NC_000016.10:67435917:G:A
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.67435918G>A, NC_000016.9:g.67469821G>A, NG_016549.1:g.9786G>A

Select item 148789641118.

rs1487896411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67434467 (GRCh38)
16:67468370 (GRCh37)
Canonical SPDI:: NC_000016.10:67434466:T:C
Gene:: HSD11B2 (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.67434467T>C, NC_000016.9:g.67468370T>C, NG_016549.1:g.8335T>C

Select item 148690789819.

rs1486907898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67432209 (GRCh38)
16:67466112 (GRCh37)
Canonical SPDI:: NC_000016.10:67432208:C:T
Gene:: HSD11B2 (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.67432209C>T, NC_000016.9:g.67466112C>T, NG_016549.1:g.6077C>T

Select item 148672908720.

rs1486729087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:67435497 (GRCh38)
16:67469400 (GRCh37)
Canonical SPDI:: NC_000016.10:67435496:G:T
Gene:: HSD11B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67435497G>T, NC_000016.9:g.67469400G>T, NG_016549.1:g.9365G>T

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