SNP Links for Protein (Select 38348362) - SNP

Select item 14905286741.

rs1490528674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:5688190 (GRCh38)
19:5688201 (GRCh37)
Canonical SPDI:: NC_000019.10:5688189:G:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.5688190G>C, NC_000019.9:g.5688201G>C, NG_017015.1:g.2930G>C, NM_198706.3:c.*245G>C, NM_198706.2:c.*245G>C, NM_198707.3:c.*245G>C, NM_198707.2:c.*245G>C, NM_198708.3:c.*245G>C, NM_198708.2:c.*245G>C, NM_198533.3:c.943G>C, NM_198533.2:c.943G>C, NM_198705.3:c.*245G>C, NM_198705.2:c.*245G>C, NM_198704.3:c.541G>C, NM_198704.2:c.541G>C, NM_001267868.2:c.*245G>C, NM_001267868.1:c.*245G>C, NM_001267869.2:c.*245G>C, NM_001267869.1:c.*245G>C, NM_001267870.2:c.*156G>C, NM_001267870.1:c.*156G>C, NM_001267871.2:c.700G>C, NM_001267871.1:c.700G>C, NP_940935.1:p.Asp315His, NP_941993.1:p.Asp181His, NP_001254800.1:p.Asp234His

Select item 14866059692.

rs1486605969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:5687522 (GRCh38)
19:5687533 (GRCh37)
Canonical SPDI:: NC_000019.10:5687521:C:G
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5687522C>G, NC_000019.9:g.5687533C>G, NG_017015.1:g.2262C>G, NM_198706.3:c.522C>G, NM_198706.2:c.522C>G, NM_198707.3:c.261C>G, NM_198707.2:c.261C>G, NM_198708.3:c.120C>G, NM_198708.2:c.120C>G, NM_198533.3:c.522C>G, NM_198533.2:c.522C>G, NM_198705.3:c.279C>G, NM_198705.2:c.279C>G, NM_198704.3:c.120C>G, NM_198704.2:c.120C>G, NM_001267868.2:c.663C>G, NM_001267868.1:c.663C>G, NM_001267869.2:c.120C>G, NM_001267869.1:c.120C>G, NM_001267870.2:c.187C>G, NM_001267870.1:c.187C>G, NM_001267871.2:c.279C>G, NM_001267871.1:c.279C>G, NP_941995.1:p.Phe174Leu, NP_941996.1:p.Phe87Leu, NP_941997.1:p.Phe40Leu, NP_940935.1:p.Phe174Leu, NP_941994.1:p.Phe93Leu, NP_941993.1:p.Phe40Leu, NP_001254797.1:p.Phe221Leu, NP_001254798.1:p.Phe40Leu, NP_001254799.1:p.Leu63Val, NP_001254800.1:p.Phe93Leu

Select item 14861971053.

rs1486197105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:5688107 (GRCh38)
19:5688118 (GRCh37)
Canonical SPDI:: NC_000019.10:5688106:A:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.5688107A>C, NC_000019.9:g.5688118A>C, NG_017015.1:g.2847A>C, NM_198706.3:c.*162A>C, NM_198706.2:c.*162A>C, NM_198707.3:c.*162A>C, NM_198707.2:c.*162A>C, NM_198708.3:c.*162A>C, NM_198708.2:c.*162A>C, NM_198533.3:c.860A>C, NM_198533.2:c.860A>C, NM_198705.3:c.*162A>C, NM_198705.2:c.*162A>C, NM_198704.3:c.458A>C, NM_198704.2:c.458A>C, NM_001267868.2:c.*162A>C, NM_001267868.1:c.*162A>C, NM_001267869.2:c.*162A>C, NM_001267869.1:c.*162A>C, NM_001267870.2:c.*73A>C, NM_001267870.1:c.*73A>C, NM_001267871.2:c.617A>C, NM_001267871.1:c.617A>C, NP_940935.1:p.Glu287Ala, NP_941993.1:p.Glu153Ala, NP_001254800.1:p.Glu206Ala

Select item 14839027684.

rs1483902768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5685022 (GRCh38)
19:5685033 (GRCh37)
Canonical SPDI:: NC_000019.10:5685021:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (GnomAD)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5685022G>A, NC_000019.9:g.5685033G>A, NM_198706.3:c.107G>A, NM_198706.2:c.107G>A, NM_198707.3:c.-155G>A, NM_198707.2:c.-155G>A, NM_198708.3:c.-184G>A, NM_198708.2:c.-184G>A, NM_198533.3:c.107G>A, NM_198533.2:c.107G>A, NM_198704.3:c.-184G>A, NM_198704.2:c.-184G>A, NM_001267868.2:c.248G>A, NM_001267868.1:c.248G>A, NM_001267869.2:c.-184G>A, NM_001267869.1:c.-184G>A, NP_941995.1:p.Gly36Glu, NP_940935.1:p.Gly36Glu, NP_001254797.1:p.Gly83Glu

Select item 14838290205.

rs1483829020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:5687307 (GRCh38)
19:5687318 (GRCh37)
Canonical SPDI:: NC_000019.10:5687306:T:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_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_000019.10:g.5687307T>A, NC_000019.9:g.5687318T>A, NG_017015.1:g.2047T>A, NM_198706.3:c.434T>A, NM_198706.2:c.434T>A, NM_198707.3:c.173T>A, NM_198707.2:c.173T>A, NM_198708.3:c.32T>A, NM_198708.2:c.32T>A, NM_198533.3:c.434T>A, NM_198533.2:c.434T>A, NM_198705.3:c.191T>A, NM_198705.2:c.191T>A, NM_198704.3:c.32T>A, NM_198704.2:c.32T>A, NM_001267868.2:c.575T>A, NM_001267868.1:c.575T>A, NM_001267869.2:c.32T>A, NM_001267869.1:c.32T>A, NM_001267870.2:c.99T>A, NM_001267870.1:c.99T>A, NM_001267871.2:c.191T>A, NM_001267871.1:c.191T>A, NP_941995.1:p.Leu145Gln, NP_941996.1:p.Leu58Gln, NP_941997.1:p.Leu11Gln, NP_940935.1:p.Leu145Gln, NP_941994.1:p.Leu64Gln, NP_941993.1:p.Leu11Gln, NP_001254797.1:p.Leu192Gln, NP_001254798.1:p.Leu11Gln, NP_001254800.1:p.Leu64Gln

Select item 14824970606.

rs1482497060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5686520 (GRCh38)
19:5686531 (GRCh37)
Canonical SPDI:: NC_000019.10:5686519:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.5686520C>T, NC_000019.9:g.5686531C>T, NG_017015.1:g.1260C>T, NM_198706.3:c.309C>T, NM_198706.2:c.309C>T, NM_198707.3:c.48C>T, NM_198707.2:c.48C>T, NM_198533.3:c.309C>T, NM_198533.2:c.309C>T, NM_001267868.2:c.450C>T, NM_001267868.1:c.450C>T

Select item 14814306697.

rs1481430669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:5684993 (GRCh38)
19:5685004 (GRCh37)
Canonical SPDI:: NC_000019.10:5684992:C:G
Gene:: HSD11B1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.5684993C>G, NC_000019.9:g.5685004C>G, NM_198706.3:c.78C>G, NM_198706.2:c.78C>G, NM_198707.3:c.-184C>G, NM_198707.2:c.-184C>G, NM_198708.3:c.-213C>G, NM_198708.2:c.-213C>G, NM_198533.3:c.78C>G, NM_198533.2:c.78C>G, NM_198704.3:c.-213C>G, NM_198704.2:c.-213C>G, NM_001267868.2:c.219C>G, NM_001267868.1:c.219C>G, NM_001267869.2:c.-213C>G, NM_001267869.1:c.-213C>G, NP_941995.1:p.Ser26Arg, NP_940935.1:p.Ser26Arg, NP_001254797.1:p.Ser73Arg

Select item 14808653468.

rs1480865346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:5688047 (GRCh38)
19:5688058 (GRCh37)
Canonical SPDI:: NC_000019.10:5688046:A:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_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_000019.10:g.5688047A>C, NC_000019.9:g.5688058A>C, NG_017015.1:g.2787A>C, NM_198706.3:c.*102A>C, NM_198706.2:c.*102A>C, NM_198707.3:c.*102A>C, NM_198707.2:c.*102A>C, NM_198708.3:c.*102A>C, NM_198708.2:c.*102A>C, NM_198533.3:c.800A>C, NM_198533.2:c.800A>C, NM_198705.3:c.*102A>C, NM_198705.2:c.*102A>C, NM_198704.3:c.398A>C, NM_198704.2:c.398A>C, NM_001267868.2:c.*102A>C, NM_001267868.1:c.*102A>C, NM_001267869.2:c.*102A>C, NM_001267869.1:c.*102A>C, NM_001267870.2:c.*13A>C, NM_001267870.1:c.*13A>C, NM_001267871.2:c.557A>C, NM_001267871.1:c.557A>C, NP_940935.1:p.Gln267Pro, NP_941993.1:p.Gln133Pro, NP_001254800.1:p.Gln186Pro

Select item 14792958229.

rs1479295822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687511 (GRCh38)
19:5687522 (GRCh37)
Canonical SPDI:: NC_000019.10:5687510:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.5687511C>T, NC_000019.9:g.5687522C>T, NG_017015.1:g.2251C>T, NM_198706.3:c.511C>T, NM_198706.2:c.511C>T, NM_198707.3:c.250C>T, NM_198707.2:c.250C>T, NM_198708.3:c.109C>T, NM_198708.2:c.109C>T, NM_198533.3:c.511C>T, NM_198533.2:c.511C>T, NM_198705.3:c.268C>T, NM_198705.2:c.268C>T, NM_198704.3:c.109C>T, NM_198704.2:c.109C>T, NM_001267868.2:c.652C>T, NM_001267868.1:c.652C>T, NM_001267869.2:c.109C>T, NM_001267869.1:c.109C>T, NM_001267870.2:c.176C>T, NM_001267870.1:c.176C>T, NM_001267871.2:c.268C>T, NM_001267871.1:c.268C>T, NP_941995.1:p.Pro171Ser, NP_941996.1:p.Pro84Ser, NP_941997.1:p.Pro37Ser, NP_940935.1:p.Pro171Ser, NP_941994.1:p.Pro90Ser, NP_941993.1:p.Pro37Ser, NP_001254797.1:p.Pro218Ser, NP_001254798.1:p.Pro37Ser, NP_001254799.1:p.Ala59Val, NP_001254800.1:p.Pro90Ser

Select item 147926625010.

rs1479266250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:5686470 (GRCh38)
19:5686481 (GRCh37)
Canonical SPDI:: NC_000019.10:5686469:G:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_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_000019.10:g.5686470G>T, NC_000019.9:g.5686481G>T, NG_017015.1:g.1210G>T, NM_198706.3:c.259G>T, NM_198706.2:c.259G>T, NM_198707.3:c.-3G>T, NM_198707.2:c.-3G>T, NM_198533.3:c.259G>T, NM_198533.2:c.259G>T, NM_001267868.2:c.400G>T, NM_001267868.1:c.400G>T, NP_941995.1:p.Asp87Tyr, NP_940935.1:p.Asp87Tyr, NP_001254797.1:p.Asp134Tyr

Select item 147652049111.

rs1476520491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:5688017 (GRCh38)
19:5688028 (GRCh37)
Canonical SPDI:: NC_000019.10:5688016:T:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0003/1 (KOREAN)
HGVS:: NC_000019.10:g.5688017T>C, NC_000019.9:g.5688028T>C, NG_017015.1:g.2757T>C, NM_198706.3:c.*72T>C, NM_198706.2:c.*72T>C, NM_198707.3:c.*72T>C, NM_198707.2:c.*72T>C, NM_198708.3:c.*72T>C, NM_198708.2:c.*72T>C, NM_198533.3:c.770T>C, NM_198533.2:c.770T>C, NM_198705.3:c.*72T>C, NM_198705.2:c.*72T>C, NM_198704.3:c.368T>C, NM_198704.2:c.368T>C, NM_001267868.2:c.*72T>C, NM_001267868.1:c.*72T>C, NM_001267869.2:c.*72T>C, NM_001267869.1:c.*72T>C, NM_001267870.2:c.598T>C, NM_001267870.1:c.598T>C, NM_001267871.2:c.527T>C, NM_001267871.1:c.527T>C, NP_940935.1:p.Leu257Pro, NP_941993.1:p.Leu123Pro, NP_001254799.1:p.Ser200Pro, NP_001254800.1:p.Leu176Pro

Select item 147510802412.

rs1475108024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687919 (GRCh38)
19:5687930 (GRCh37)
Canonical SPDI:: NC_000019.10:5687918:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.5687919C>T, NC_000019.9:g.5687930C>T, NG_017015.1:g.2659C>T, NM_198706.3:c.835C>T, NM_198706.2:c.835C>T, NM_198707.3:c.574C>T, NM_198707.2:c.574C>T, NM_198708.3:c.433C>T, NM_198708.2:c.433C>T, NM_198533.3:c.672C>T, NM_198533.2:c.672C>T, NM_198705.3:c.592C>T, NM_198705.2:c.592C>T, NM_198704.3:c.270C>T, NM_198704.2:c.270C>T, NM_001267868.2:c.976C>T, NM_001267868.1:c.976C>T, NM_001267869.2:c.433C>T, NM_001267869.1:c.433C>T, NM_001267870.2:c.500C>T, NM_001267870.1:c.500C>T, NM_001267871.2:c.429C>T, NM_001267871.1:c.429C>T, NP_941995.1:p.Leu279Phe, NP_941996.1:p.Leu192Phe, NP_941997.1:p.Leu145Phe, NP_941994.1:p.Leu198Phe, NP_001254797.1:p.Leu326Phe, NP_001254798.1:p.Leu145Phe, NP_001254799.1:p.Ala167Val

Select item 147206416313.

rs1472064163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5686467 (GRCh38)
19:5686478 (GRCh37)
Canonical SPDI:: NC_000019.10:5686466:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.5686467G>A, NC_000019.9:g.5686478G>A, NG_017015.1:g.1207G>A, NM_198706.3:c.256G>A, NM_198706.2:c.256G>A, NM_198707.3:c.-6G>A, NM_198707.2:c.-6G>A, NM_198533.3:c.256G>A, NM_198533.2:c.256G>A, NM_001267868.2:c.397G>A, NM_001267868.1:c.397G>A, NP_941995.1:p.Ala86Thr, NP_940935.1:p.Ala86Thr, NP_001254797.1:p.Ala133Thr

Select item 147081349714.

rs1470813497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687975 (GRCh38)
19:5687986 (GRCh37)
Canonical SPDI:: NC_000019.10:5687974:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.5687975C>T, NC_000019.9:g.5687986C>T, NG_017015.1:g.2715C>T, NM_198706.3:c.*30C>T, NM_198706.2:c.*30C>T, NM_198707.3:c.*30C>T, NM_198707.2:c.*30C>T, NM_198708.3:c.*30C>T, NM_198708.2:c.*30C>T, NM_198533.3:c.728C>T, NM_198533.2:c.728C>T, NM_198705.3:c.*30C>T, NM_198705.2:c.*30C>T, NM_198704.3:c.326C>T, NM_198704.2:c.326C>T, NM_001267868.2:c.*30C>T, NM_001267868.1:c.*30C>T, NM_001267869.2:c.*30C>T, NM_001267869.1:c.*30C>T, NM_001267870.2:c.556C>T, NM_001267870.1:c.556C>T, NM_001267871.2:c.485C>T, NM_001267871.1:c.485C>T, NP_940935.1:p.Thr243Met, NP_941993.1:p.Thr109Met, NP_001254799.1:p.Arg186Trp, NP_001254800.1:p.Thr162Met

Select item 147022981515.

rs1470229815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:5688130 (GRCh38)
19:5688141 (GRCh37)
Canonical SPDI:: NC_000019.10:5688129:C:A,NC_000019.10:5688129:C:G
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.5688130C>A, NC_000019.10:g.5688130C>G, NC_000019.9:g.5688141C>A, NC_000019.9:g.5688141C>G, NG_017015.1:g.2870C>A, NG_017015.1:g.2870C>G, NM_198706.3:c.*185C>A, NM_198706.3:c.*185C>G, NM_198706.2:c.*185C>A, NM_198706.2:c.*185C>G, NM_198707.3:c.*185C>A, NM_198707.3:c.*185C>G, NM_198707.2:c.*185C>A, NM_198707.2:c.*185C>G, NM_198708.3:c.*185C>A, NM_198708.3:c.*185C>G, NM_198708.2:c.*185C>A, NM_198708.2:c.*185C>G, NM_198533.3:c.883C>A, NM_198533.3:c.883C>G, NM_198533.2:c.883C>A, NM_198533.2:c.883C>G, NM_198705.3:c.*185C>A, NM_198705.3:c.*185C>G, NM_198705.2:c.*185C>A, NM_198705.2:c.*185C>G, NM_198704.3:c.481C>A, NM_198704.3:c.481C>G, NM_198704.2:c.481C>A, NM_198704.2:c.481C>G, NM_001267868.2:c.*185C>A, NM_001267868.2:c.*185C>G, NM_001267868.1:c.*185C>A, NM_001267868.1:c.*185C>G, NM_001267869.2:c.*185C>A, NM_001267869.2:c.*185C>G, NM_001267869.1:c.*185C>A, NM_001267869.1:c.*185C>G, NM_001267870.2:c.*96C>A, NM_001267870.2:c.*96C>G, NM_001267870.1:c.*96C>A, NM_001267870.1:c.*96C>G, NM_001267871.2:c.640C>A, NM_001267871.2:c.640C>G, NM_001267871.1:c.640C>A, NM_001267871.1:c.640C>G, NP_940935.1:p.Gln295Lys, NP_940935.1:p.Gln295Glu, NP_941993.1:p.Gln161Lys, NP_941993.1:p.Gln161Glu, NP_001254800.1:p.Gln214Lys, NP_001254800.1:p.Gln214Glu

Select item 146859298816.

rs1468592988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5687633 (GRCh38)
19:5687644 (GRCh37)
Canonical SPDI:: NC_000019.10:5687632:C:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.5687633C>T, NC_000019.9:g.5687644C>T, NG_017015.1:g.2373C>T, NM_198706.3:c.633C>T, NM_198706.2:c.633C>T, NM_198707.3:c.372C>T, NM_198707.2:c.372C>T, NM_198708.3:c.231C>T, NM_198708.2:c.231C>T, NM_198533.3:c.633C>T, NM_198533.2:c.633C>T, NM_198705.3:c.390C>T, NM_198705.2:c.390C>T, NM_198704.3:c.231C>T, NM_198704.2:c.231C>T, NM_001267868.2:c.774C>T, NM_001267868.1:c.774C>T, NM_001267869.2:c.231C>T, NM_001267869.1:c.231C>T, NM_001267870.2:c.298C>T, NM_001267870.1:c.298C>T, NM_001267871.2:c.390C>T, NM_001267871.1:c.390C>T, NP_001254799.1:p.Pro100Ser

Select item 146755360517.

rs1467553605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:5687951 (GRCh38)
19:5687962 (GRCh37)
Canonical SPDI:: NC_000019.10:5687950:G:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_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_000019.10:g.5687951G>C, NC_000019.9:g.5687962G>C, NG_017015.1:g.2691G>C, NM_198706.3:c.*6G>C, NM_198706.2:c.*6G>C, NM_198707.3:c.*6G>C, NM_198707.2:c.*6G>C, NM_198708.3:c.*6G>C, NM_198708.2:c.*6G>C, NM_198533.3:c.704G>C, NM_198533.2:c.704G>C, NM_198705.3:c.*6G>C, NM_198705.2:c.*6G>C, NM_198704.3:c.302G>C, NM_198704.2:c.302G>C, NM_001267868.2:c.*6G>C, NM_001267868.1:c.*6G>C, NM_001267869.2:c.*6G>C, NM_001267869.1:c.*6G>C, NM_001267870.2:c.532G>C, NM_001267870.1:c.532G>C, NM_001267871.2:c.461G>C, NM_001267871.1:c.461G>C, NP_940935.1:p.Arg235Pro, NP_941993.1:p.Arg101Pro, NP_001254799.1:p.Gly178Arg, NP_001254800.1:p.Arg154Pro

Select item 146753015818.

rs1467530158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:5687646 (GRCh38)
19:5687657 (GRCh37)
Canonical SPDI:: NC_000019.10:5687645:G:A,NC_000019.10:5687645:G:T
Gene:: HSD11B1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/2 (ALFA)
HGVS:: NC_000019.10:g.5687646G>A, NC_000019.10:g.5687646G>T, NC_000019.9:g.5687657G>A, NC_000019.9:g.5687657G>T, NG_017015.1:g.2386G>A, NG_017015.1:g.2386G>T, NM_198706.3:c.646G>A, NM_198706.3:c.646G>T, NM_198706.2:c.646G>A, NM_198706.2:c.646G>T, NM_198707.3:c.385G>A, NM_198707.3:c.385G>T, NM_198707.2:c.385G>A, NM_198707.2:c.385G>T, NM_198708.3:c.244G>A, NM_198708.3:c.244G>T, NM_198708.2:c.244G>A, NM_198708.2:c.244G>T, NM_198533.3:c.646G>A, NM_198533.3:c.646G>T, NM_198533.2:c.646G>A, NM_198533.2:c.646G>T, NM_198705.3:c.403G>A, NM_198705.3:c.403G>T, NM_198705.2:c.403G>A, NM_198705.2:c.403G>T, NM_198704.3:c.244G>A, NM_198704.3:c.244G>T, NM_198704.2:c.244G>A, NM_198704.2:c.244G>T, NM_001267868.2:c.787G>A, NM_001267868.2:c.787G>T, NM_001267868.1:c.787G>A, NM_001267868.1:c.787G>T, NM_001267869.2:c.244G>A, NM_001267869.2:c.244G>T, NM_001267869.1:c.244G>A, NM_001267869.1:c.244G>T, NM_001267870.2:c.311G>A, NM_001267870.2:c.311G>T, NM_001267870.1:c.311G>A, NM_001267870.1:c.311G>T, NM_001267871.2:c.403G>A, NM_001267871.2:c.403G>T, NM_001267871.1:c.403G>A, NM_001267871.1:c.403G>T, NP_941995.1:p.Ala216Thr, NP_941995.1:p.Ala216Ser, NP_941996.1:p.Ala129Thr, NP_941996.1:p.Ala129Ser, NP_941997.1:p.Ala82Thr, NP_941997.1:p.Ala82Ser, NP_940935.1:p.Ala216Thr, NP_940935.1:p.Ala216Ser, NP_941994.1:p.Ala135Thr, NP_941994.1:p.Ala135Ser, NP_941993.1:p.Ala82Thr, NP_941993.1:p.Ala82Ser, NP_001254797.1:p.Ala263Thr, NP_001254797.1:p.Ala263Ser, NP_001254798.1:p.Ala82Thr, NP_001254798.1:p.Ala82Ser, NP_001254799.1:p.Arg104His, NP_001254799.1:p.Arg104Leu, NP_001254800.1:p.Ala135Thr, NP_001254800.1:p.Ala135Ser

Select item 146529289419.

rs1465292894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:5687333 (GRCh38)
19:5687344 (GRCh37)
Canonical SPDI:: NC_000019.10:5687332:A:C
Gene:: HSD11B1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5687333A>C, NC_000019.9:g.5687344A>C, NG_017015.1:g.2073A>C, NM_198706.3:c.460A>C, NM_198706.2:c.460A>C, NM_198707.3:c.199A>C, NM_198707.2:c.199A>C, NM_198708.3:c.58A>C, NM_198708.2:c.58A>C, NM_198533.3:c.460A>C, NM_198533.2:c.460A>C, NM_198705.3:c.217A>C, NM_198705.2:c.217A>C, NM_198704.3:c.58A>C, NM_198704.2:c.58A>C, NM_001267868.2:c.601A>C, NM_001267868.1:c.601A>C, NM_001267869.2:c.58A>C, NM_001267869.1:c.58A>C, NM_001267870.2:c.125A>C, NM_001267870.1:c.125A>C, NM_001267871.2:c.217A>C, NM_001267871.1:c.217A>C, NP_941995.1:p.Thr154Pro, NP_941996.1:p.Thr67Pro, NP_941997.1:p.Thr20Pro, NP_940935.1:p.Thr154Pro, NP_941994.1:p.Thr73Pro, NP_941993.1:p.Thr20Pro, NP_001254797.1:p.Thr201Pro, NP_001254798.1:p.Thr20Pro, NP_001254799.1:p.Asp42Ala, NP_001254800.1:p.Thr73Pro

Select item 146493815520.

rs1464938155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5684839 (GRCh38)
19:5684850 (GRCh37)
Canonical SPDI:: NC_000019.10:5684838:G:A
Gene:: HSD11B1L (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5684839G>A, NC_000019.9:g.5684850G>A, NM_198706.3:c.7G>A, NM_198706.2:c.7G>A, NM_198708.3:c.-284G>A, NM_198708.2:c.-284G>A, NM_198533.3:c.7G>A, NM_198533.2:c.7G>A, NM_198705.3:c.7G>A, NM_198705.2:c.7G>A, NM_001267868.2:c.148G>A, NM_001267868.1:c.148G>A, NM_001267870.2:c.7G>A, NM_001267870.1:c.7G>A, NM_001267871.2:c.7G>A, NM_001267871.1:c.7G>A, NP_941995.1:p.Val3Met, NP_940935.1:p.Val3Met, NP_941994.1:p.Val3Met, NP_001254797.1:p.Val50Met, NP_001254799.1:p.Val3Met, NP_001254800.1:p.Val3Met

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