SNP Links for Protein (Select 530401926) - SNP

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Links from Protein

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Select item 14903115861.

rs1490311586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132570014 (GRCh38)
12:133146600 (GRCh37)
Canonical SPDI:: NC_000012.12:132570013:C:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132570014C>T, NC_000012.11:g.133146600C>T, XM_005266171.5:c.780C>T, XM_005266171.4:c.780C>T, XM_005266171.3:c.780C>T, XM_005266171.2:c.780C>T, XM_005266171.1:c.780C>T, XM_005266173.5:c.780C>T, XM_005266173.4:c.780C>T, XM_005266173.3:c.780C>T, XM_005266173.2:c.780C>T, XM_005266173.1:c.780C>T, XM_005266175.5:c.780C>T, XM_005266175.4:c.780C>T, XM_005266175.3:c.780C>T, XM_005266175.2:c.780C>T, XM_005266175.1:c.780C>T, XM_005266176.5:c.780C>T, XM_005266176.4:c.780C>T, XM_005266176.3:c.780C>T, XM_005266176.2:c.780C>T, XM_005266176.1:c.780C>T, XM_005266177.5:c.780C>T, XM_005266177.4:c.780C>T, XM_005266177.3:c.780C>T, XM_005266177.2:c.780C>T, XM_005266177.1:c.780C>T, XM_011534803.4:c.780C>T, XM_011534803.3:c.780C>T, XM_011534803.2:c.780C>T, XM_011534803.1:c.780C>T, XM_011534804.4:c.780C>T, XM_011534804.3:c.780C>T, XM_011534804.2:c.780C>T, XM_011534804.1:c.780C>T, XM_011534806.4:c.780C>T, XM_011534806.3:c.780C>T, XM_011534806.2:c.780C>T, XM_011534806.1:c.780C>T, XM_011534805.4:c.780C>T, XM_011534805.3:c.780C>T, XM_011534805.2:c.780C>T, XM_011534805.1:c.780C>T, XM_011534807.4:c.780C>T, XM_011534807.3:c.780C>T, XM_011534807.2:c.780C>T, XM_011534807.1:c.780C>T, XM_011534808.4:c.780C>T, XM_011534808.3:c.780C>T, XM_011534808.2:c.780C>T, XM_011534808.1:c.780C>T, XM_011534809.4:c.780C>T, XM_011534809.3:c.780C>T, XM_011534809.2:c.780C>T, XM_011534809.1:c.780C>T, XM_011534810.4:c.780C>T, XM_011534810.3:c.780C>T, XM_011534810.2:c.780C>T, XM_011534810.1:c.780C>T, XM_011534812.3:c.483C>T, XM_011534812.2:c.483C>T, XM_011534812.1:c.483C>T, NM_001142641.2:c.780C>T, NM_001142641.1:c.780C>T, XM_047429219.1:c.780C>T, NM_001382739.1:c.780C>T, NM_001367871.1:c.780C>T, NM_001382740.1:c.780C>T, XM_047429220.1:c.780C>T

Select item 14882524622.

rs1488252462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132490623 (GRCh38)
12:133067209 (GRCh37)
Canonical SPDI:: NC_000012.12:132490622:G:A
Gene:: FBRSL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000012.12:g.132490623G>A, NC_000012.11:g.133067209G>A, XM_005266171.5:c.53G>A, XM_005266171.4:c.53G>A, XM_005266171.3:c.53G>A, XM_005266171.2:c.53G>A, XM_005266171.1:c.53G>A, XM_005266173.5:c.53G>A, XM_005266173.4:c.53G>A, XM_005266173.3:c.53G>A, XM_005266173.2:c.53G>A, XM_005266173.1:c.53G>A, XM_005266175.5:c.53G>A, XM_005266175.4:c.53G>A, XM_005266175.3:c.53G>A, XM_005266175.2:c.53G>A, XM_005266175.1:c.53G>A, XM_005266176.5:c.53G>A, XM_005266176.4:c.53G>A, XM_005266176.3:c.53G>A, XM_005266176.2:c.53G>A, XM_005266176.1:c.53G>A, XM_005266177.5:c.53G>A, XM_005266177.4:c.53G>A, XM_005266177.3:c.53G>A, XM_005266177.2:c.53G>A, XM_005266177.1:c.53G>A, XM_011534803.4:c.53G>A, XM_011534803.3:c.53G>A, XM_011534803.2:c.53G>A, XM_011534803.1:c.53G>A, XM_011534804.4:c.53G>A, XM_011534804.3:c.53G>A, XM_011534804.2:c.53G>A, XM_011534804.1:c.53G>A, XM_011534806.4:c.53G>A, XM_011534806.3:c.53G>A, XM_011534806.2:c.53G>A, XM_011534806.1:c.53G>A, XM_011534805.4:c.53G>A, XM_011534805.3:c.53G>A, XM_011534805.2:c.53G>A, XM_011534805.1:c.53G>A, XM_011534807.4:c.53G>A, XM_011534807.3:c.53G>A, XM_011534807.2:c.53G>A, XM_011534807.1:c.53G>A, XM_011534808.4:c.53G>A, XM_011534808.3:c.53G>A, XM_011534808.2:c.53G>A, XM_011534808.1:c.53G>A, XM_011534809.4:c.53G>A, XM_011534809.3:c.53G>A, XM_011534809.2:c.53G>A, XM_011534809.1:c.53G>A, XM_011534810.4:c.53G>A, XM_011534810.3:c.53G>A, XM_011534810.2:c.53G>A, XM_011534810.1:c.53G>A, XM_011534812.3:c.-382G>A, NM_001142641.2:c.53G>A, NM_001142641.1:c.53G>A, XM_047429219.1:c.53G>A, NM_001382739.1:c.53G>A, NM_001367871.1:c.53G>A, NM_001382740.1:c.53G>A, NR_168498.1:n.473G>A, NM_001382741.1:c.53G>A, XM_047429220.1:c.53G>A, NM_001382743.1:c.53G>A, XP_005266228.1:p.Gly18Asp, XP_005266230.1:p.Gly18Asp, XP_005266232.1:p.Gly18Asp, XP_005266233.1:p.Gly18Asp, XP_005266234.1:p.Gly18Asp, XP_011533105.1:p.Gly18Asp, XP_011533106.1:p.Gly18Asp, XP_011533108.1:p.Gly18Asp, XP_011533107.1:p.Gly18Asp, XP_011533109.1:p.Gly18Asp, XP_011533110.1:p.Gly18Asp, XP_011533111.1:p.Gly18Asp, XP_011533112.1:p.Gly18Asp, NP_001136113.1:p.Gly18Asp, XP_047285175.1:p.Gly18Asp, NP_001369668.1:p.Gly18Asp, NP_001354800.1:p.Gly18Asp, NP_001369669.1:p.Gly18Asp, NP_001369670.1:p.Gly18Asp, XP_047285176.1:p.Gly18Asp, NP_001369672.1:p.Gly18Asp

Select item 14879313413.

rs1487931341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:132571485 (GRCh38)
12:133148071 (GRCh37)
Canonical SPDI:: NC_000012.12:132571484:C:G,NC_000012.12:132571484:C:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132571485C>G, NC_000012.12:g.132571485C>T, NC_000012.11:g.133148071C>G, NC_000012.11:g.133148071C>T, XM_005266171.5:c.1461C>G, XM_005266171.5:c.1461C>T, XM_005266171.4:c.1461C>G, XM_005266171.4:c.1461C>T, XM_005266171.3:c.1461C>G, XM_005266171.3:c.1461C>T, XM_005266171.2:c.1461C>G, XM_005266171.2:c.1461C>T, XM_005266171.1:c.1461C>G, XM_005266171.1:c.1461C>T, XM_005266173.5:c.1461C>G, XM_005266173.5:c.1461C>T, XM_005266173.4:c.1461C>G, XM_005266173.4:c.1461C>T, XM_005266173.3:c.1461C>G, XM_005266173.3:c.1461C>T, XM_005266173.2:c.1461C>G, XM_005266173.2:c.1461C>T, XM_005266173.1:c.1461C>G, XM_005266173.1:c.1461C>T, XM_005266175.5:c.1461C>G, XM_005266175.5:c.1461C>T, XM_005266175.4:c.1461C>G, XM_005266175.4:c.1461C>T, XM_005266175.3:c.1461C>G, XM_005266175.3:c.1461C>T, XM_005266175.2:c.1461C>G, XM_005266175.2:c.1461C>T, XM_005266175.1:c.1461C>G, XM_005266175.1:c.1461C>T, XM_005266177.5:c.1461C>G, XM_005266177.5:c.1461C>T, XM_005266177.4:c.1461C>G, XM_005266177.4:c.1461C>T, XM_005266177.3:c.1461C>G, XM_005266177.3:c.1461C>T, XM_005266177.2:c.1461C>G, XM_005266177.2:c.1461C>T, XM_005266177.1:c.1461C>G, XM_005266177.1:c.1461C>T, XM_011534803.4:c.1461C>G, XM_011534803.4:c.1461C>T, XM_011534803.3:c.1461C>G, XM_011534803.3:c.1461C>T, XM_011534803.2:c.1461C>G, XM_011534803.2:c.1461C>T, XM_011534803.1:c.1461C>G, XM_011534803.1:c.1461C>T, XM_011534804.4:c.1458C>G, XM_011534804.4:c.1458C>T, XM_011534804.3:c.1458C>G, XM_011534804.3:c.1458C>T, XM_011534804.2:c.1458C>G, XM_011534804.2:c.1458C>T, XM_011534804.1:c.1458C>G, XM_011534804.1:c.1458C>T, XM_011534806.4:c.1461C>G, XM_011534806.4:c.1461C>T, XM_011534806.3:c.1461C>G, XM_011534806.3:c.1461C>T, XM_011534806.2:c.1461C>G, XM_011534806.2:c.1461C>T, XM_011534806.1:c.1461C>G, XM_011534806.1:c.1461C>T, XM_011534805.4:c.1392C>G, XM_011534805.4:c.1392C>T, XM_011534805.3:c.1392C>G, XM_011534805.3:c.1392C>T, XM_011534805.2:c.1392C>G, XM_011534805.2:c.1392C>T, XM_011534805.1:c.1392C>G, XM_011534805.1:c.1392C>T, XM_011534808.4:c.1461C>G, XM_011534808.4:c.1461C>T, XM_011534808.3:c.1461C>G, XM_011534808.3:c.1461C>T, XM_011534808.2:c.1461C>G, XM_011534808.2:c.1461C>T, XM_011534808.1:c.1461C>G, XM_011534808.1:c.1461C>T, XM_011534810.4:c.1461C>G, XM_011534810.4:c.1461C>T, XM_011534810.3:c.1461C>G, XM_011534810.3:c.1461C>T, XM_011534810.2:c.1461C>G, XM_011534810.2:c.1461C>T, XM_011534810.1:c.1461C>G, XM_011534810.1:c.1461C>T, XM_011534812.3:c.1164C>G, XM_011534812.3:c.1164C>T, XM_011534812.2:c.1164C>G, XM_011534812.2:c.1164C>T, XM_011534812.1:c.1164C>G, XM_011534812.1:c.1164C>T, NM_001142641.2:c.1392C>G, NM_001142641.2:c.1392C>T, NM_001142641.1:c.1392C>G, NM_001142641.1:c.1392C>T, NM_001382739.1:c.1392C>G, NM_001382739.1:c.1392C>T, XM_047429220.1:c.1461C>G, XM_047429220.1:c.1461C>T

Select item 14877453334.

rs1487745333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCGGCGCACCGCCC>- [Show Flanks]
Chromosome:: 12:132583627 (GRCh38)
12:133160213 (GRCh37)
Canonical SPDI:: NC_000012.12:132583620:CCGCCCTCGGCGCACCGCCC:CCGCCC
Gene:: FBRSL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCC=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.132583627_132583640del, NC_000012.11:g.133160213_133160226del, XM_005266171.5:c.3107_3120del, XM_005266171.4:c.3107_3120del, XM_005266171.3:c.3107_3120del, XM_005266171.2:c.3107_3120del, XM_005266171.1:c.3107_3120del, XM_005266173.5:c.3101_3114del, XM_005266173.4:c.3101_3114del, XM_005266173.3:c.3101_3114del, XM_005266173.2:c.3101_3114del, XM_005266173.1:c.3101_3114del, XM_005266175.5:c.3038_3051del, XM_005266175.4:c.3038_3051del, XM_005266175.3:c.3038_3051del, XM_005266175.2:c.3038_3051del, XM_005266175.1:c.3038_3051del, XM_005266176.5:c.2984_2997del, XM_005266176.4:c.2984_2997del, XM_005266176.3:c.2984_2997del, XM_005266176.2:c.2984_2997del, XM_005266176.1:c.2984_2997del, XM_005266177.5:c.2981_2994del, XM_005266177.4:c.2981_2994del, XM_005266177.3:c.2981_2994del, XM_005266177.2:c.2981_2994del, XM_005266177.1:c.2981_2994del, XM_011534803.4:c.3164_3177del, XM_011534803.3:c.3164_3177del, XM_011534803.2:c.3164_3177del, XM_011534803.1:c.3164_3177del, XM_011534804.4:c.3161_3174del, XM_011534804.3:c.3161_3174del, XM_011534804.2:c.3161_3174del, XM_011534804.1:c.3161_3174del, XM_011534806.4:c.3095_3108del, XM_011534806.3:c.3095_3108del, XM_011534806.2:c.3095_3108del, XM_011534806.1:c.3095_3108del, XM_011534805.4:c.3095_3108del, XM_011534805.3:c.3095_3108del, XM_011534805.2:c.3095_3108del, XM_011534805.1:c.3095_3108del, XM_011534807.4:c.3041_3054del, XM_011534807.3:c.3041_3054del, XM_011534807.2:c.3041_3054del, XM_011534807.1:c.3041_3054del, XM_011534808.4:c.3038_3051del, XM_011534808.3:c.3038_3051del, XM_011534808.2:c.3038_3051del, XM_011534808.1:c.3038_3051del, XM_011534809.4:c.2978_2991del, XM_011534809.3:c.2978_2991del, XM_011534809.2:c.2978_2991del, XM_011534809.1:c.2978_2991del, XM_011534810.4:c.2954_2967del, XM_011534810.3:c.2954_2967del, XM_011534810.2:c.2954_2967del, XM_011534810.1:c.2954_2967del, XM_011534812.3:c.2867_2880del, XM_011534812.2:c.2867_2880del, XM_011534812.1:c.2867_2880del, NM_001142641.2:c.2987_3000del, NM_001142641.1:c.2987_3000del, XM_047429219.1:c.3038_3051del, NM_001382739.1:c.2912_2925del, NM_001367871.1:c.2858_2871del, NM_001382740.1:c.2237_2250del, XP_005266228.1:p.Leu1036fs, XP_005266230.1:p.Leu1034fs, XP_005266232.1:p.Leu1013fs, XP_005266233.1:p.Leu995fs, XP_005266234.1:p.Leu994fs, XP_011533105.1:p.Leu1055fs, XP_011533106.1:p.Leu1054fs, XP_011533108.1:p.Leu1032fs, XP_011533107.1:p.Leu1032fs, XP_011533109.1:p.Leu1014fs, XP_011533110.1:p.Leu1013fs, XP_011533111.1:p.Leu993fs, XP_011533112.1:p.Leu985fs, XP_011533114.1:p.Leu956fs, NP_001136113.1:p.Leu996fs, XP_047285175.1:p.Leu1013fs, NP_001369668.1:p.Leu971fs, NP_001354800.1:p.Leu953fs, NP_001369669.1:p.Leu746fs

Select item 14871757065.

rs1487175706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132583617 (GRCh38)
12:133160203 (GRCh37)
Canonical SPDI:: NC_000012.12:132583616:G:A
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.132583617G>A, NC_000012.11:g.133160203G>A, XM_005266171.5:c.3097G>A, XM_005266171.4:c.3097G>A, XM_005266171.3:c.3097G>A, XM_005266171.2:c.3097G>A, XM_005266171.1:c.3097G>A, XM_005266173.5:c.3091G>A, XM_005266173.4:c.3091G>A, XM_005266173.3:c.3091G>A, XM_005266173.2:c.3091G>A, XM_005266173.1:c.3091G>A, XM_005266175.5:c.3028G>A, XM_005266175.4:c.3028G>A, XM_005266175.3:c.3028G>A, XM_005266175.2:c.3028G>A, XM_005266175.1:c.3028G>A, XM_005266176.5:c.2974G>A, XM_005266176.4:c.2974G>A, XM_005266176.3:c.2974G>A, XM_005266176.2:c.2974G>A, XM_005266176.1:c.2974G>A, XM_005266177.5:c.2971G>A, XM_005266177.4:c.2971G>A, XM_005266177.3:c.2971G>A, XM_005266177.2:c.2971G>A, XM_005266177.1:c.2971G>A, XM_011534803.4:c.3154G>A, XM_011534803.3:c.3154G>A, XM_011534803.2:c.3154G>A, XM_011534803.1:c.3154G>A, XM_011534804.4:c.3151G>A, XM_011534804.3:c.3151G>A, XM_011534804.2:c.3151G>A, XM_011534804.1:c.3151G>A, XM_011534806.4:c.3085G>A, XM_011534806.3:c.3085G>A, XM_011534806.2:c.3085G>A, XM_011534806.1:c.3085G>A, XM_011534805.4:c.3085G>A, XM_011534805.3:c.3085G>A, XM_011534805.2:c.3085G>A, XM_011534805.1:c.3085G>A, XM_011534807.4:c.3031G>A, XM_011534807.3:c.3031G>A, XM_011534807.2:c.3031G>A, XM_011534807.1:c.3031G>A, XM_011534808.4:c.3028G>A, XM_011534808.3:c.3028G>A, XM_011534808.2:c.3028G>A, XM_011534808.1:c.3028G>A, XM_011534809.4:c.2968G>A, XM_011534809.3:c.2968G>A, XM_011534809.2:c.2968G>A, XM_011534809.1:c.2968G>A, XM_011534810.4:c.2944G>A, XM_011534810.3:c.2944G>A, XM_011534810.2:c.2944G>A, XM_011534810.1:c.2944G>A, XM_011534812.3:c.2857G>A, XM_011534812.2:c.2857G>A, XM_011534812.1:c.2857G>A, NM_001142641.2:c.2977G>A, NM_001142641.1:c.2977G>A, XM_047429219.1:c.3028G>A, NM_001382739.1:c.2902G>A, NM_001367871.1:c.2848G>A, NM_001382740.1:c.2227G>A, XP_005266228.1:p.Ala1033Thr, XP_005266230.1:p.Ala1031Thr, XP_005266232.1:p.Ala1010Thr, XP_005266233.1:p.Ala992Thr, XP_005266234.1:p.Ala991Thr, XP_011533105.1:p.Ala1052Thr, XP_011533106.1:p.Ala1051Thr, XP_011533108.1:p.Ala1029Thr, XP_011533107.1:p.Ala1029Thr, XP_011533109.1:p.Ala1011Thr, XP_011533110.1:p.Ala1010Thr, XP_011533111.1:p.Ala990Thr, XP_011533112.1:p.Ala982Thr, XP_011533114.1:p.Ala953Thr, NP_001136113.1:p.Ala993Thr, XP_047285175.1:p.Ala1010Thr, NP_001369668.1:p.Ala968Thr, NP_001354800.1:p.Ala950Thr, NP_001369669.1:p.Ala743Thr

Select item 14863468236.

rs1486346823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:132576852 (GRCh38)
12:133153438 (GRCh37)
Canonical SPDI:: NC_000012.12:132576851:C:A,NC_000012.12:132576851:C:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000049/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000013/2 (GnomAD_exomes)
T=0.000106/3 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.132576852C>A, NC_000012.12:g.132576852C>T, NC_000012.11:g.133153438C>A, NC_000012.11:g.133153438C>T, XM_005266171.5:c.1878C>A, XM_005266171.5:c.1878C>T, XM_005266171.4:c.1878C>A, XM_005266171.4:c.1878C>T, XM_005266171.3:c.1878C>A, XM_005266171.3:c.1878C>T, XM_005266171.2:c.1878C>A, XM_005266171.2:c.1878C>T, XM_005266171.1:c.1878C>A, XM_005266171.1:c.1878C>T, XM_005266173.5:c.1872C>A, XM_005266173.5:c.1872C>T, XM_005266173.4:c.1872C>A, XM_005266173.4:c.1872C>T, XM_005266173.3:c.1872C>A, XM_005266173.3:c.1872C>T, XM_005266173.2:c.1872C>A, XM_005266173.2:c.1872C>T, XM_005266173.1:c.1872C>A, XM_005266173.1:c.1872C>T, XM_005266175.5:c.1809C>A, XM_005266175.5:c.1809C>T, XM_005266175.4:c.1809C>A, XM_005266175.4:c.1809C>T, XM_005266175.3:c.1809C>A, XM_005266175.3:c.1809C>T, XM_005266175.2:c.1809C>A, XM_005266175.2:c.1809C>T, XM_005266175.1:c.1809C>A, XM_005266175.1:c.1809C>T, XM_005266176.5:c.1755C>A, XM_005266176.5:c.1755C>T, XM_005266176.4:c.1755C>A, XM_005266176.4:c.1755C>T, XM_005266176.3:c.1755C>A, XM_005266176.3:c.1755C>T, XM_005266176.2:c.1755C>A, XM_005266176.2:c.1755C>T, XM_005266176.1:c.1755C>A, XM_005266176.1:c.1755C>T, XM_005266177.5:c.1878C>A, XM_005266177.5:c.1878C>T, XM_005266177.4:c.1878C>A, XM_005266177.4:c.1878C>T, XM_005266177.3:c.1878C>A, XM_005266177.3:c.1878C>T, XM_005266177.2:c.1878C>A, XM_005266177.2:c.1878C>T, XM_005266177.1:c.1878C>A, XM_005266177.1:c.1878C>T, XM_011534803.4:c.1935C>A, XM_011534803.4:c.1935C>T, XM_011534803.3:c.1935C>A, XM_011534803.3:c.1935C>T, XM_011534803.2:c.1935C>A, XM_011534803.2:c.1935C>T, XM_011534803.1:c.1935C>A, XM_011534803.1:c.1935C>T, XM_011534804.4:c.1932C>A, XM_011534804.4:c.1932C>T, XM_011534804.3:c.1932C>A, XM_011534804.3:c.1932C>T, XM_011534804.2:c.1932C>A, XM_011534804.2:c.1932C>T, XM_011534804.1:c.1932C>A, XM_011534804.1:c.1932C>T, XM_011534806.4:c.1866C>A, XM_011534806.4:c.1866C>T, XM_011534806.3:c.1866C>A, XM_011534806.3:c.1866C>T, XM_011534806.2:c.1866C>A, XM_011534806.2:c.1866C>T, XM_011534806.1:c.1866C>A, XM_011534806.1:c.1866C>T, XM_011534805.4:c.1866C>A, XM_011534805.4:c.1866C>T, XM_011534805.3:c.1866C>A, XM_011534805.3:c.1866C>T, XM_011534805.2:c.1866C>A, XM_011534805.2:c.1866C>T, XM_011534805.1:c.1866C>A, XM_011534805.1:c.1866C>T, XM_011534807.4:c.1812C>A, XM_011534807.4:c.1812C>T, XM_011534807.3:c.1812C>A, XM_011534807.3:c.1812C>T, XM_011534807.2:c.1812C>A, XM_011534807.2:c.1812C>T, XM_011534807.1:c.1812C>A, XM_011534807.1:c.1812C>T, XM_011534808.4:c.1935C>A, XM_011534808.4:c.1935C>T, XM_011534808.3:c.1935C>A, XM_011534808.3:c.1935C>T, XM_011534808.2:c.1935C>A, XM_011534808.2:c.1935C>T, XM_011534808.1:c.1935C>A, XM_011534808.1:c.1935C>T, XM_011534809.4:c.1749C>A, XM_011534809.4:c.1749C>T, XM_011534809.3:c.1749C>A, XM_011534809.3:c.1749C>T, XM_011534809.2:c.1749C>A, XM_011534809.2:c.1749C>T, XM_011534809.1:c.1749C>A, XM_011534809.1:c.1749C>T, XM_011534810.4:c.1935C>A, XM_011534810.4:c.1935C>T, XM_011534810.3:c.1935C>A, XM_011534810.3:c.1935C>T, XM_011534810.2:c.1935C>A, XM_011534810.2:c.1935C>T, XM_011534810.1:c.1935C>A, XM_011534810.1:c.1935C>T, XM_011534812.3:c.1638C>A, XM_011534812.3:c.1638C>T, XM_011534812.2:c.1638C>A, XM_011534812.2:c.1638C>T, XM_011534812.1:c.1638C>A, XM_011534812.1:c.1638C>T, NM_001142641.2:c.1884C>A, NM_001142641.2:c.1884C>T, NM_001142641.1:c.1884C>A, NM_001142641.1:c.1884C>T, XM_047429219.1:c.1809C>A, XM_047429219.1:c.1809C>T, NM_001382739.1:c.1809C>A, NM_001382739.1:c.1809C>T, NM_001367871.1:c.1755C>A, NM_001367871.1:c.1755C>T, XM_047429220.1:c.1935C>A, XM_047429220.1:c.1935C>T, XP_005266228.1:p.Phe626Leu, XP_005266230.1:p.Phe624Leu, XP_005266232.1:p.Phe603Leu, XP_005266233.1:p.Phe585Leu, XP_005266234.1:p.Phe626Leu, XP_011533105.1:p.Phe645Leu, XP_011533106.1:p.Phe644Leu, XP_011533108.1:p.Phe622Leu, XP_011533107.1:p.Phe622Leu, XP_011533109.1:p.Phe604Leu, XP_011533110.1:p.Phe645Leu, XP_011533111.1:p.Phe583Leu, XP_011533112.1:p.Phe645Leu, XP_011533114.1:p.Phe546Leu, NP_001136113.1:p.Phe628Leu, XP_047285175.1:p.Phe603Leu, NP_001369668.1:p.Phe603Leu, NP_001354800.1:p.Phe585Leu, XP_047285176.1:p.Phe645Leu

Select item 14863374287.

rs1486337428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132581750 (GRCh38)
12:133158336 (GRCh37)
Canonical SPDI:: NC_000012.12:132581749:G:A
Gene:: FBRSL1 (Varview), MIR6763 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.132581750G>A, NC_000012.11:g.133158336G>A, XM_005266171.5:c.2171G>A, XM_005266171.4:c.2171G>A, XM_005266171.3:c.2171G>A, XM_005266171.2:c.2171G>A, XM_005266171.1:c.2171G>A, XM_005266173.5:c.2165G>A, XM_005266173.4:c.2165G>A, XM_005266173.3:c.2165G>A, XM_005266173.2:c.2165G>A, XM_005266173.1:c.2165G>A, XM_005266175.5:c.2102G>A, XM_005266175.4:c.2102G>A, XM_005266175.3:c.2102G>A, XM_005266175.2:c.2102G>A, XM_005266175.1:c.2102G>A, XM_005266176.5:c.2048G>A, XM_005266176.4:c.2048G>A, XM_005266176.3:c.2048G>A, XM_005266176.2:c.2048G>A, XM_005266176.1:c.2048G>A, XM_005266177.5:c.2045G>A, XM_005266177.4:c.2045G>A, XM_005266177.3:c.2045G>A, XM_005266177.2:c.2045G>A, XM_005266177.1:c.2045G>A, XM_011534803.4:c.2228G>A, XM_011534803.3:c.2228G>A, XM_011534803.2:c.2228G>A, XM_011534803.1:c.2228G>A, XM_011534804.4:c.2225G>A, XM_011534804.3:c.2225G>A, XM_011534804.2:c.2225G>A, XM_011534804.1:c.2225G>A, XM_011534806.4:c.2159G>A, XM_011534806.3:c.2159G>A, XM_011534806.2:c.2159G>A, XM_011534806.1:c.2159G>A, XM_011534805.4:c.2159G>A, XM_011534805.3:c.2159G>A, XM_011534805.2:c.2159G>A, XM_011534805.1:c.2159G>A, XM_011534807.4:c.2105G>A, XM_011534807.3:c.2105G>A, XM_011534807.2:c.2105G>A, XM_011534807.1:c.2105G>A, XM_011534808.4:c.2102G>A, XM_011534808.3:c.2102G>A, XM_011534808.2:c.2102G>A, XM_011534808.1:c.2102G>A, XM_011534809.4:c.2042G>A, XM_011534809.3:c.2042G>A, XM_011534809.2:c.2042G>A, XM_011534809.1:c.2042G>A, XM_011534812.3:c.1931G>A, XM_011534812.2:c.1931G>A, XM_011534812.1:c.1931G>A, NM_001142641.2:c.2051G>A, NM_001142641.1:c.2051G>A, XM_047429219.1:c.2102G>A, NM_001382739.1:c.1976G>A, NM_001367871.1:c.1922G>A, NM_001382740.1:c.1301G>A, XP_005266228.1:p.Ser724Asn, XP_005266230.1:p.Ser722Asn, XP_005266232.1:p.Ser701Asn, XP_005266233.1:p.Ser683Asn, XP_005266234.1:p.Ser682Asn, XP_011533105.1:p.Ser743Asn, XP_011533106.1:p.Ser742Asn, XP_011533108.1:p.Ser720Asn, XP_011533107.1:p.Ser720Asn, XP_011533109.1:p.Ser702Asn, XP_011533110.1:p.Ser701Asn, XP_011533111.1:p.Ser681Asn, XP_011533114.1:p.Ser644Asn, NP_001136113.1:p.Ser684Asn, XP_047285175.1:p.Ser701Asn, NP_001369668.1:p.Ser659Asn, NP_001354800.1:p.Ser641Asn, NP_001369669.1:p.Ser434Asn

Select item 14860343678.

rs1486034367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132582090 (GRCh38)
12:133158676 (GRCh37)
Canonical SPDI:: NC_000012.12:132582089:G:A
Gene:: FBRSL1 (Varview), MIR6763 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132582090G>A, NC_000012.11:g.133158676G>A, XM_005266171.5:c.2274G>A, XM_005266171.4:c.2274G>A, XM_005266171.3:c.2274G>A, XM_005266171.2:c.2274G>A, XM_005266171.1:c.2274G>A, XM_005266173.5:c.2268G>A, XM_005266173.4:c.2268G>A, XM_005266173.3:c.2268G>A, XM_005266173.2:c.2268G>A, XM_005266173.1:c.2268G>A, XM_005266175.5:c.2205G>A, XM_005266175.4:c.2205G>A, XM_005266175.3:c.2205G>A, XM_005266175.2:c.2205G>A, XM_005266175.1:c.2205G>A, XM_005266176.5:c.2151G>A, XM_005266176.4:c.2151G>A, XM_005266176.3:c.2151G>A, XM_005266176.2:c.2151G>A, XM_005266176.1:c.2151G>A, XM_005266177.5:c.2148G>A, XM_005266177.4:c.2148G>A, XM_005266177.3:c.2148G>A, XM_005266177.2:c.2148G>A, XM_005266177.1:c.2148G>A, XM_011534803.4:c.2331G>A, XM_011534803.3:c.2331G>A, XM_011534803.2:c.2331G>A, XM_011534803.1:c.2331G>A, XM_011534804.4:c.2328G>A, XM_011534804.3:c.2328G>A, XM_011534804.2:c.2328G>A, XM_011534804.1:c.2328G>A, XM_011534806.4:c.2262G>A, XM_011534806.3:c.2262G>A, XM_011534806.2:c.2262G>A, XM_011534806.1:c.2262G>A, XM_011534805.4:c.2262G>A, XM_011534805.3:c.2262G>A, XM_011534805.2:c.2262G>A, XM_011534805.1:c.2262G>A, XM_011534807.4:c.2208G>A, XM_011534807.3:c.2208G>A, XM_011534807.2:c.2208G>A, XM_011534807.1:c.2208G>A, XM_011534808.4:c.2205G>A, XM_011534808.3:c.2205G>A, XM_011534808.2:c.2205G>A, XM_011534808.1:c.2205G>A, XM_011534809.4:c.2145G>A, XM_011534809.3:c.2145G>A, XM_011534809.2:c.2145G>A, XM_011534809.1:c.2145G>A, XM_011534810.4:c.2121G>A, XM_011534810.3:c.2121G>A, XM_011534810.2:c.2121G>A, XM_011534810.1:c.2121G>A, XM_011534812.3:c.2034G>A, XM_011534812.2:c.2034G>A, XM_011534812.1:c.2034G>A, NM_001142641.2:c.2154G>A, NM_001142641.1:c.2154G>A, XM_047429219.1:c.2205G>A, NM_001382739.1:c.2079G>A, NM_001367871.1:c.2025G>A, NM_001382740.1:c.1404G>A

Select item 14859308429.

rs1485930842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:132583290 (GRCh38)
12:133159876 (GRCh37)
Canonical SPDI:: NC_000012.12:132583289:G:C
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.132583290G>C, NC_000012.11:g.133159876G>C, XM_005266171.5:c.2770G>C, XM_005266171.4:c.2770G>C, XM_005266171.3:c.2770G>C, XM_005266171.2:c.2770G>C, XM_005266171.1:c.2770G>C, XM_005266173.5:c.2764G>C, XM_005266173.4:c.2764G>C, XM_005266173.3:c.2764G>C, XM_005266173.2:c.2764G>C, XM_005266173.1:c.2764G>C, XM_005266175.5:c.2701G>C, XM_005266175.4:c.2701G>C, XM_005266175.3:c.2701G>C, XM_005266175.2:c.2701G>C, XM_005266175.1:c.2701G>C, XM_005266176.5:c.2647G>C, XM_005266176.4:c.2647G>C, XM_005266176.3:c.2647G>C, XM_005266176.2:c.2647G>C, XM_005266176.1:c.2647G>C, XM_005266177.5:c.2644G>C, XM_005266177.4:c.2644G>C, XM_005266177.3:c.2644G>C, XM_005266177.2:c.2644G>C, XM_005266177.1:c.2644G>C, XM_011534803.4:c.2827G>C, XM_011534803.3:c.2827G>C, XM_011534803.2:c.2827G>C, XM_011534803.1:c.2827G>C, XM_011534804.4:c.2824G>C, XM_011534804.3:c.2824G>C, XM_011534804.2:c.2824G>C, XM_011534804.1:c.2824G>C, XM_011534806.4:c.2758G>C, XM_011534806.3:c.2758G>C, XM_011534806.2:c.2758G>C, XM_011534806.1:c.2758G>C, XM_011534805.4:c.2758G>C, XM_011534805.3:c.2758G>C, XM_011534805.2:c.2758G>C, XM_011534805.1:c.2758G>C, XM_011534807.4:c.2704G>C, XM_011534807.3:c.2704G>C, XM_011534807.2:c.2704G>C, XM_011534807.1:c.2704G>C, XM_011534808.4:c.2701G>C, XM_011534808.3:c.2701G>C, XM_011534808.2:c.2701G>C, XM_011534808.1:c.2701G>C, XM_011534809.4:c.2641G>C, XM_011534809.3:c.2641G>C, XM_011534809.2:c.2641G>C, XM_011534809.1:c.2641G>C, XM_011534810.4:c.2617G>C, XM_011534810.3:c.2617G>C, XM_011534810.2:c.2617G>C, XM_011534810.1:c.2617G>C, XM_011534812.3:c.2530G>C, XM_011534812.2:c.2530G>C, XM_011534812.1:c.2530G>C, NM_001142641.2:c.2650G>C, NM_001142641.1:c.2650G>C, XM_047429219.1:c.2701G>C, NM_001382739.1:c.2575G>C, NM_001367871.1:c.2521G>C, NM_001382740.1:c.1900G>C, XP_005266228.1:p.Gly924Arg, XP_005266230.1:p.Gly922Arg, XP_005266232.1:p.Gly901Arg, XP_005266233.1:p.Gly883Arg, XP_005266234.1:p.Gly882Arg, XP_011533105.1:p.Gly943Arg, XP_011533106.1:p.Gly942Arg, XP_011533108.1:p.Gly920Arg, XP_011533107.1:p.Gly920Arg, XP_011533109.1:p.Gly902Arg, XP_011533110.1:p.Gly901Arg, XP_011533111.1:p.Gly881Arg, XP_011533112.1:p.Gly873Arg, XP_011533114.1:p.Gly844Arg, NP_001136113.1:p.Gly884Arg, XP_047285175.1:p.Gly901Arg, NP_001369668.1:p.Gly859Arg, NP_001354800.1:p.Gly841Arg, NP_001369669.1:p.Gly634Arg

Select item 148590115310.

rs1485901153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132583743 (GRCh38)
12:133160329 (GRCh37)
Canonical SPDI:: NC_000012.12:132583742:C:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132583743C>T, NC_000012.11:g.133160329C>T, XM_005266171.5:c.3223C>T, XM_005266171.4:c.3223C>T, XM_005266171.3:c.3223C>T, XM_005266171.2:c.3223C>T, XM_005266171.1:c.3223C>T, XM_005266173.5:c.3217C>T, XM_005266173.4:c.3217C>T, XM_005266173.3:c.3217C>T, XM_005266173.2:c.3217C>T, XM_005266173.1:c.3217C>T, XM_005266175.5:c.3154C>T, XM_005266175.4:c.3154C>T, XM_005266175.3:c.3154C>T, XM_005266175.2:c.3154C>T, XM_005266175.1:c.3154C>T, XM_005266176.5:c.3100C>T, XM_005266176.4:c.3100C>T, XM_005266176.3:c.3100C>T, XM_005266176.2:c.3100C>T, XM_005266176.1:c.3100C>T, XM_005266177.5:c.3097C>T, XM_005266177.4:c.3097C>T, XM_005266177.3:c.3097C>T, XM_005266177.2:c.3097C>T, XM_005266177.1:c.3097C>T, XM_011534803.4:c.3280C>T, XM_011534803.3:c.3280C>T, XM_011534803.2:c.3280C>T, XM_011534803.1:c.3280C>T, XM_011534804.4:c.3277C>T, XM_011534804.3:c.3277C>T, XM_011534804.2:c.3277C>T, XM_011534804.1:c.3277C>T, XM_011534806.4:c.3211C>T, XM_011534806.3:c.3211C>T, XM_011534806.2:c.3211C>T, XM_011534806.1:c.3211C>T, XM_011534805.4:c.3211C>T, XM_011534805.3:c.3211C>T, XM_011534805.2:c.3211C>T, XM_011534805.1:c.3211C>T, XM_011534807.4:c.3157C>T, XM_011534807.3:c.3157C>T, XM_011534807.2:c.3157C>T, XM_011534807.1:c.3157C>T, XM_011534808.4:c.3154C>T, XM_011534808.3:c.3154C>T, XM_011534808.2:c.3154C>T, XM_011534808.1:c.3154C>T, XM_011534809.4:c.3094C>T, XM_011534809.3:c.3094C>T, XM_011534809.2:c.3094C>T, XM_011534809.1:c.3094C>T, XM_011534810.4:c.3070C>T, XM_011534810.3:c.3070C>T, XM_011534810.2:c.3070C>T, XM_011534810.1:c.3070C>T, XM_011534812.3:c.2983C>T, XM_011534812.2:c.2983C>T, XM_011534812.1:c.2983C>T, NM_001142641.2:c.3103C>T, NM_001142641.1:c.3103C>T, XM_047429219.1:c.3154C>T, NM_001382739.1:c.3028C>T, NM_001367871.1:c.2974C>T, NM_001382740.1:c.2353C>T, XP_005266228.1:p.Pro1075Ser, XP_005266230.1:p.Pro1073Ser, XP_005266232.1:p.Pro1052Ser, XP_005266233.1:p.Pro1034Ser, XP_005266234.1:p.Pro1033Ser, XP_011533105.1:p.Pro1094Ser, XP_011533106.1:p.Pro1093Ser, XP_011533108.1:p.Pro1071Ser, XP_011533107.1:p.Pro1071Ser, XP_011533109.1:p.Pro1053Ser, XP_011533110.1:p.Pro1052Ser, XP_011533111.1:p.Pro1032Ser, XP_011533112.1:p.Pro1024Ser, XP_011533114.1:p.Pro995Ser, NP_001136113.1:p.Pro1035Ser, XP_047285175.1:p.Pro1052Ser, NP_001369668.1:p.Pro1010Ser, NP_001354800.1:p.Pro992Ser, NP_001369669.1:p.Pro785Ser

Select item 148583370711.

rs1485833707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:132490809 (GRCh38)
12:133067395 (GRCh37)
Canonical SPDI:: NC_000012.12:132490808:A:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000012.12:g.132490809A>T, NC_000012.11:g.133067395A>T, XM_005266171.5:c.239A>T, XM_005266171.4:c.239A>T, XM_005266171.3:c.239A>T, XM_005266171.2:c.239A>T, XM_005266171.1:c.239A>T, XM_005266173.5:c.239A>T, XM_005266173.4:c.239A>T, XM_005266173.3:c.239A>T, XM_005266173.2:c.239A>T, XM_005266173.1:c.239A>T, XM_005266175.5:c.239A>T, XM_005266175.4:c.239A>T, XM_005266175.3:c.239A>T, XM_005266175.2:c.239A>T, XM_005266175.1:c.239A>T, XM_005266176.5:c.239A>T, XM_005266176.4:c.239A>T, XM_005266176.3:c.239A>T, XM_005266176.2:c.239A>T, XM_005266176.1:c.239A>T, XM_005266177.5:c.239A>T, XM_005266177.4:c.239A>T, XM_005266177.3:c.239A>T, XM_005266177.2:c.239A>T, XM_005266177.1:c.239A>T, XM_011534803.4:c.239A>T, XM_011534803.3:c.239A>T, XM_011534803.2:c.239A>T, XM_011534803.1:c.239A>T, XM_011534804.4:c.239A>T, XM_011534804.3:c.239A>T, XM_011534804.2:c.239A>T, XM_011534804.1:c.239A>T, XM_011534806.4:c.239A>T, XM_011534806.3:c.239A>T, XM_011534806.2:c.239A>T, XM_011534806.1:c.239A>T, XM_011534805.4:c.239A>T, XM_011534805.3:c.239A>T, XM_011534805.2:c.239A>T, XM_011534805.1:c.239A>T, XM_011534807.4:c.239A>T, XM_011534807.3:c.239A>T, XM_011534807.2:c.239A>T, XM_011534807.1:c.239A>T, XM_011534808.4:c.239A>T, XM_011534808.3:c.239A>T, XM_011534808.2:c.239A>T, XM_011534808.1:c.239A>T, XM_011534809.4:c.239A>T, XM_011534809.3:c.239A>T, XM_011534809.2:c.239A>T, XM_011534809.1:c.239A>T, XM_011534810.4:c.239A>T, XM_011534810.3:c.239A>T, XM_011534810.2:c.239A>T, XM_011534810.1:c.239A>T, XM_011534812.3:c.-196A>T, XM_011534812.2:c.-196A>T, XM_011534812.1:c.-196A>T, NM_001142641.2:c.239A>T, NM_001142641.1:c.239A>T, XM_047429219.1:c.239A>T, NM_001382739.1:c.239A>T, NM_001367871.1:c.239A>T, NM_001382740.1:c.239A>T, NR_168498.1:n.659A>T, NM_001382741.1:c.239A>T, XM_047429220.1:c.239A>T, NM_001382743.1:c.239A>T, XP_005266228.1:p.Glu80Val, XP_005266230.1:p.Glu80Val, XP_005266232.1:p.Glu80Val, XP_005266233.1:p.Glu80Val, XP_005266234.1:p.Glu80Val, XP_011533105.1:p.Glu80Val, XP_011533106.1:p.Glu80Val, XP_011533108.1:p.Glu80Val, XP_011533107.1:p.Glu80Val, XP_011533109.1:p.Glu80Val, XP_011533110.1:p.Glu80Val, XP_011533111.1:p.Glu80Val, XP_011533112.1:p.Glu80Val, NP_001136113.1:p.Glu80Val, XP_047285175.1:p.Glu80Val, NP_001369668.1:p.Glu80Val, NP_001354800.1:p.Glu80Val, NP_001369669.1:p.Glu80Val, NP_001369670.1:p.Glu80Val, XP_047285176.1:p.Glu80Val, NP_001369672.1:p.Glu80Val

Select item 148580241712.

rs1485802417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:132583694 (GRCh38)
12:133160280 (GRCh37)
Canonical SPDI:: NC_000012.12:132583693:G:C,NC_000012.12:132583693:G:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.132583694G>C, NC_000012.12:g.132583694G>T, NC_000012.11:g.133160280G>C, NC_000012.11:g.133160280G>T, XM_005266171.5:c.3174G>C, XM_005266171.5:c.3174G>T, XM_005266171.4:c.3174G>C, XM_005266171.4:c.3174G>T, XM_005266171.3:c.3174G>C, XM_005266171.3:c.3174G>T, XM_005266171.2:c.3174G>C, XM_005266171.2:c.3174G>T, XM_005266171.1:c.3174G>C, XM_005266171.1:c.3174G>T, XM_005266173.5:c.3168G>C, XM_005266173.5:c.3168G>T, XM_005266173.4:c.3168G>C, XM_005266173.4:c.3168G>T, XM_005266173.3:c.3168G>C, XM_005266173.3:c.3168G>T, XM_005266173.2:c.3168G>C, XM_005266173.2:c.3168G>T, XM_005266173.1:c.3168G>C, XM_005266173.1:c.3168G>T, XM_005266175.5:c.3105G>C, XM_005266175.5:c.3105G>T, XM_005266175.4:c.3105G>C, XM_005266175.4:c.3105G>T, XM_005266175.3:c.3105G>C, XM_005266175.3:c.3105G>T, XM_005266175.2:c.3105G>C, XM_005266175.2:c.3105G>T, XM_005266175.1:c.3105G>C, XM_005266175.1:c.3105G>T, XM_005266176.5:c.3051G>C, XM_005266176.5:c.3051G>T, XM_005266176.4:c.3051G>C, XM_005266176.4:c.3051G>T, XM_005266176.3:c.3051G>C, XM_005266176.3:c.3051G>T, XM_005266176.2:c.3051G>C, XM_005266176.2:c.3051G>T, XM_005266176.1:c.3051G>C, XM_005266176.1:c.3051G>T, XM_005266177.5:c.3048G>C, XM_005266177.5:c.3048G>T, XM_005266177.4:c.3048G>C, XM_005266177.4:c.3048G>T, XM_005266177.3:c.3048G>C, XM_005266177.3:c.3048G>T, XM_005266177.2:c.3048G>C, XM_005266177.2:c.3048G>T, XM_005266177.1:c.3048G>C, XM_005266177.1:c.3048G>T, XM_011534803.4:c.3231G>C, XM_011534803.4:c.3231G>T, XM_011534803.3:c.3231G>C, XM_011534803.3:c.3231G>T, XM_011534803.2:c.3231G>C, XM_011534803.2:c.3231G>T, XM_011534803.1:c.3231G>C, XM_011534803.1:c.3231G>T, XM_011534804.4:c.3228G>C, XM_011534804.4:c.3228G>T, XM_011534804.3:c.3228G>C, XM_011534804.3:c.3228G>T, XM_011534804.2:c.3228G>C, XM_011534804.2:c.3228G>T, XM_011534804.1:c.3228G>C, XM_011534804.1:c.3228G>T, XM_011534806.4:c.3162G>C, XM_011534806.4:c.3162G>T, XM_011534806.3:c.3162G>C, XM_011534806.3:c.3162G>T, XM_011534806.2:c.3162G>C, XM_011534806.2:c.3162G>T, XM_011534806.1:c.3162G>C, XM_011534806.1:c.3162G>T, XM_011534805.4:c.3162G>C, XM_011534805.4:c.3162G>T, XM_011534805.3:c.3162G>C, XM_011534805.3:c.3162G>T, XM_011534805.2:c.3162G>C, XM_011534805.2:c.3162G>T, XM_011534805.1:c.3162G>C, XM_011534805.1:c.3162G>T, XM_011534807.4:c.3108G>C, XM_011534807.4:c.3108G>T, XM_011534807.3:c.3108G>C, XM_011534807.3:c.3108G>T, XM_011534807.2:c.3108G>C, XM_011534807.2:c.3108G>T, XM_011534807.1:c.3108G>C, XM_011534807.1:c.3108G>T, XM_011534808.4:c.3105G>C, XM_011534808.4:c.3105G>T, XM_011534808.3:c.3105G>C, XM_011534808.3:c.3105G>T, XM_011534808.2:c.3105G>C, XM_011534808.2:c.3105G>T, XM_011534808.1:c.3105G>C, XM_011534808.1:c.3105G>T, XM_011534809.4:c.3045G>C, XM_011534809.4:c.3045G>T, XM_011534809.3:c.3045G>C, XM_011534809.3:c.3045G>T, XM_011534809.2:c.3045G>C, XM_011534809.2:c.3045G>T, XM_011534809.1:c.3045G>C, XM_011534809.1:c.3045G>T, XM_011534810.4:c.3021G>C, XM_011534810.4:c.3021G>T, XM_011534810.3:c.3021G>C, XM_011534810.3:c.3021G>T, XM_011534810.2:c.3021G>C, XM_011534810.2:c.3021G>T, XM_011534810.1:c.3021G>C, XM_011534810.1:c.3021G>T, XM_011534812.3:c.2934G>C, XM_011534812.3:c.2934G>T, XM_011534812.2:c.2934G>C, XM_011534812.2:c.2934G>T, XM_011534812.1:c.2934G>C, XM_011534812.1:c.2934G>T, NM_001142641.2:c.3054G>C, NM_001142641.2:c.3054G>T, NM_001142641.1:c.3054G>C, NM_001142641.1:c.3054G>T, XM_047429219.1:c.3105G>C, XM_047429219.1:c.3105G>T, NM_001382739.1:c.2979G>C, NM_001382739.1:c.2979G>T, NM_001367871.1:c.2925G>C, NM_001367871.1:c.2925G>T, NM_001382740.1:c.2304G>C, NM_001382740.1:c.2304G>T

Select item 148447260913.

rs1484472609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:132583150 (GRCh38)
12:133159736 (GRCh37)
Canonical SPDI:: NC_000012.12:132583149:C:A
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.132583150C>A, NC_000012.11:g.133159736C>A, XM_005266171.5:c.2630C>A, XM_005266171.4:c.2630C>A, XM_005266171.3:c.2630C>A, XM_005266171.2:c.2630C>A, XM_005266171.1:c.2630C>A, XM_005266173.5:c.2624C>A, XM_005266173.4:c.2624C>A, XM_005266173.3:c.2624C>A, XM_005266173.2:c.2624C>A, XM_005266173.1:c.2624C>A, XM_005266175.5:c.2561C>A, XM_005266175.4:c.2561C>A, XM_005266175.3:c.2561C>A, XM_005266175.2:c.2561C>A, XM_005266175.1:c.2561C>A, XM_005266176.5:c.2507C>A, XM_005266176.4:c.2507C>A, XM_005266176.3:c.2507C>A, XM_005266176.2:c.2507C>A, XM_005266176.1:c.2507C>A, XM_005266177.5:c.2504C>A, XM_005266177.4:c.2504C>A, XM_005266177.3:c.2504C>A, XM_005266177.2:c.2504C>A, XM_005266177.1:c.2504C>A, XM_011534803.4:c.2687C>A, XM_011534803.3:c.2687C>A, XM_011534803.2:c.2687C>A, XM_011534803.1:c.2687C>A, XM_011534804.4:c.2684C>A, XM_011534804.3:c.2684C>A, XM_011534804.2:c.2684C>A, XM_011534804.1:c.2684C>A, XM_011534806.4:c.2618C>A, XM_011534806.3:c.2618C>A, XM_011534806.2:c.2618C>A, XM_011534806.1:c.2618C>A, XM_011534805.4:c.2618C>A, XM_011534805.3:c.2618C>A, XM_011534805.2:c.2618C>A, XM_011534805.1:c.2618C>A, XM_011534807.4:c.2564C>A, XM_011534807.3:c.2564C>A, XM_011534807.2:c.2564C>A, XM_011534807.1:c.2564C>A, XM_011534808.4:c.2561C>A, XM_011534808.3:c.2561C>A, XM_011534808.2:c.2561C>A, XM_011534808.1:c.2561C>A, XM_011534809.4:c.2501C>A, XM_011534809.3:c.2501C>A, XM_011534809.2:c.2501C>A, XM_011534809.1:c.2501C>A, XM_011534810.4:c.2477C>A, XM_011534810.3:c.2477C>A, XM_011534810.2:c.2477C>A, XM_011534810.1:c.2477C>A, XM_011534812.3:c.2390C>A, XM_011534812.2:c.2390C>A, XM_011534812.1:c.2390C>A, NM_001142641.2:c.2510C>A, NM_001142641.1:c.2510C>A, XM_047429219.1:c.2561C>A, NM_001382739.1:c.2435C>A, NM_001367871.1:c.2381C>A, NM_001382740.1:c.1760C>A, XP_005266228.1:p.Ala877Asp, XP_005266230.1:p.Ala875Asp, XP_005266232.1:p.Ala854Asp, XP_005266233.1:p.Ala836Asp, XP_005266234.1:p.Ala835Asp, XP_011533105.1:p.Ala896Asp, XP_011533106.1:p.Ala895Asp, XP_011533108.1:p.Ala873Asp, XP_011533107.1:p.Ala873Asp, XP_011533109.1:p.Ala855Asp, XP_011533110.1:p.Ala854Asp, XP_011533111.1:p.Ala834Asp, XP_011533112.1:p.Ala826Asp, XP_011533114.1:p.Ala797Asp, NP_001136113.1:p.Ala837Asp, XP_047285175.1:p.Ala854Asp, NP_001369668.1:p.Ala812Asp, NP_001354800.1:p.Ala794Asp, NP_001369669.1:p.Ala587Asp

Select item 148407291714.

rs1484072917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:132583154 (GRCh38)
12:133159740 (GRCh37)
Canonical SPDI:: NC_000012.12:132583153:G:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.132583154G>T, NC_000012.11:g.133159740G>T, XM_005266171.5:c.2634G>T, XM_005266171.4:c.2634G>T, XM_005266171.3:c.2634G>T, XM_005266171.2:c.2634G>T, XM_005266171.1:c.2634G>T, XM_005266173.5:c.2628G>T, XM_005266173.4:c.2628G>T, XM_005266173.3:c.2628G>T, XM_005266173.2:c.2628G>T, XM_005266173.1:c.2628G>T, XM_005266175.5:c.2565G>T, XM_005266175.4:c.2565G>T, XM_005266175.3:c.2565G>T, XM_005266175.2:c.2565G>T, XM_005266175.1:c.2565G>T, XM_005266176.5:c.2511G>T, XM_005266176.4:c.2511G>T, XM_005266176.3:c.2511G>T, XM_005266176.2:c.2511G>T, XM_005266176.1:c.2511G>T, XM_005266177.5:c.2508G>T, XM_005266177.4:c.2508G>T, XM_005266177.3:c.2508G>T, XM_005266177.2:c.2508G>T, XM_005266177.1:c.2508G>T, XM_011534803.4:c.2691G>T, XM_011534803.3:c.2691G>T, XM_011534803.2:c.2691G>T, XM_011534803.1:c.2691G>T, XM_011534804.4:c.2688G>T, XM_011534804.3:c.2688G>T, XM_011534804.2:c.2688G>T, XM_011534804.1:c.2688G>T, XM_011534806.4:c.2622G>T, XM_011534806.3:c.2622G>T, XM_011534806.2:c.2622G>T, XM_011534806.1:c.2622G>T, XM_011534805.4:c.2622G>T, XM_011534805.3:c.2622G>T, XM_011534805.2:c.2622G>T, XM_011534805.1:c.2622G>T, XM_011534807.4:c.2568G>T, XM_011534807.3:c.2568G>T, XM_011534807.2:c.2568G>T, XM_011534807.1:c.2568G>T, XM_011534808.4:c.2565G>T, XM_011534808.3:c.2565G>T, XM_011534808.2:c.2565G>T, XM_011534808.1:c.2565G>T, XM_011534809.4:c.2505G>T, XM_011534809.3:c.2505G>T, XM_011534809.2:c.2505G>T, XM_011534809.1:c.2505G>T, XM_011534810.4:c.2481G>T, XM_011534810.3:c.2481G>T, XM_011534810.2:c.2481G>T, XM_011534810.1:c.2481G>T, XM_011534812.3:c.2394G>T, XM_011534812.2:c.2394G>T, XM_011534812.1:c.2394G>T, NM_001142641.2:c.2514G>T, NM_001142641.1:c.2514G>T, XM_047429219.1:c.2565G>T, NM_001382739.1:c.2439G>T, NM_001367871.1:c.2385G>T, NM_001382740.1:c.1764G>T, XP_005266228.1:p.Lys878Asn, XP_005266230.1:p.Lys876Asn, XP_005266232.1:p.Lys855Asn, XP_005266233.1:p.Lys837Asn, XP_005266234.1:p.Lys836Asn, XP_011533105.1:p.Lys897Asn, XP_011533106.1:p.Lys896Asn, XP_011533108.1:p.Lys874Asn, XP_011533107.1:p.Lys874Asn, XP_011533109.1:p.Lys856Asn, XP_011533110.1:p.Lys855Asn, XP_011533111.1:p.Lys835Asn, XP_011533112.1:p.Lys827Asn, XP_011533114.1:p.Lys798Asn, NP_001136113.1:p.Lys838Asn, XP_047285175.1:p.Lys855Asn, NP_001369668.1:p.Lys813Asn, NP_001354800.1:p.Lys795Asn, NP_001369669.1:p.Lys588Asn

Select item 148347810415.

rs1483478104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132571465 (GRCh38)
12:133148051 (GRCh37)
Canonical SPDI:: NC_000012.12:132571464:C:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000039/6 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132571465C>T, NC_000012.11:g.133148051C>T, XM_005266171.5:c.1441C>T, XM_005266171.4:c.1441C>T, XM_005266171.3:c.1441C>T, XM_005266171.2:c.1441C>T, XM_005266171.1:c.1441C>T, XM_005266173.5:c.1441C>T, XM_005266173.4:c.1441C>T, XM_005266173.3:c.1441C>T, XM_005266173.2:c.1441C>T, XM_005266173.1:c.1441C>T, XM_005266175.5:c.1441C>T, XM_005266175.4:c.1441C>T, XM_005266175.3:c.1441C>T, XM_005266175.2:c.1441C>T, XM_005266175.1:c.1441C>T, XM_005266177.5:c.1441C>T, XM_005266177.4:c.1441C>T, XM_005266177.3:c.1441C>T, XM_005266177.2:c.1441C>T, XM_005266177.1:c.1441C>T, XM_011534803.4:c.1441C>T, XM_011534803.3:c.1441C>T, XM_011534803.2:c.1441C>T, XM_011534803.1:c.1441C>T, XM_011534804.4:c.1438C>T, XM_011534804.3:c.1438C>T, XM_011534804.2:c.1438C>T, XM_011534804.1:c.1438C>T, XM_011534806.4:c.1441C>T, XM_011534806.3:c.1441C>T, XM_011534806.2:c.1441C>T, XM_011534806.1:c.1441C>T, XM_011534805.4:c.1372C>T, XM_011534805.3:c.1372C>T, XM_011534805.2:c.1372C>T, XM_011534805.1:c.1372C>T, XM_011534808.4:c.1441C>T, XM_011534808.3:c.1441C>T, XM_011534808.2:c.1441C>T, XM_011534808.1:c.1441C>T, XM_011534810.4:c.1441C>T, XM_011534810.3:c.1441C>T, XM_011534810.2:c.1441C>T, XM_011534810.1:c.1441C>T, XM_011534812.3:c.1144C>T, XM_011534812.2:c.1144C>T, XM_011534812.1:c.1144C>T, NM_001142641.2:c.1372C>T, NM_001142641.1:c.1372C>T, NM_001382739.1:c.1372C>T, XM_047429220.1:c.1441C>T, XP_005266228.1:p.His481Tyr, XP_005266230.1:p.His481Tyr, XP_005266232.1:p.His481Tyr, XP_005266234.1:p.His481Tyr, XP_011533105.1:p.His481Tyr, XP_011533106.1:p.His480Tyr, XP_011533108.1:p.His481Tyr, XP_011533107.1:p.His458Tyr, XP_011533110.1:p.His481Tyr, XP_011533112.1:p.His481Tyr, XP_011533114.1:p.His382Tyr, NP_001136113.1:p.His458Tyr, NP_001369668.1:p.His458Tyr, XP_047285176.1:p.His481Tyr

Select item 148344878816.

rs1483448788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132582980 (GRCh38)
12:133159566 (GRCh37)
Canonical SPDI:: NC_000012.12:132582979:G:A
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000012.12:g.132582980G>A, NC_000012.11:g.133159566G>A, XM_005266171.5:c.2460G>A, XM_005266171.4:c.2460G>A, XM_005266171.3:c.2460G>A, XM_005266171.2:c.2460G>A, XM_005266171.1:c.2460G>A, XM_005266173.5:c.2454G>A, XM_005266173.4:c.2454G>A, XM_005266173.3:c.2454G>A, XM_005266173.2:c.2454G>A, XM_005266173.1:c.2454G>A, XM_005266175.5:c.2391G>A, XM_005266175.4:c.2391G>A, XM_005266175.3:c.2391G>A, XM_005266175.2:c.2391G>A, XM_005266175.1:c.2391G>A, XM_005266176.5:c.2337G>A, XM_005266176.4:c.2337G>A, XM_005266176.3:c.2337G>A, XM_005266176.2:c.2337G>A, XM_005266176.1:c.2337G>A, XM_005266177.5:c.2334G>A, XM_005266177.4:c.2334G>A, XM_005266177.3:c.2334G>A, XM_005266177.2:c.2334G>A, XM_005266177.1:c.2334G>A, XM_011534803.4:c.2517G>A, XM_011534803.3:c.2517G>A, XM_011534803.2:c.2517G>A, XM_011534803.1:c.2517G>A, XM_011534804.4:c.2514G>A, XM_011534804.3:c.2514G>A, XM_011534804.2:c.2514G>A, XM_011534804.1:c.2514G>A, XM_011534806.4:c.2448G>A, XM_011534806.3:c.2448G>A, XM_011534806.2:c.2448G>A, XM_011534806.1:c.2448G>A, XM_011534805.4:c.2448G>A, XM_011534805.3:c.2448G>A, XM_011534805.2:c.2448G>A, XM_011534805.1:c.2448G>A, XM_011534807.4:c.2394G>A, XM_011534807.3:c.2394G>A, XM_011534807.2:c.2394G>A, XM_011534807.1:c.2394G>A, XM_011534808.4:c.2391G>A, XM_011534808.3:c.2391G>A, XM_011534808.2:c.2391G>A, XM_011534808.1:c.2391G>A, XM_011534809.4:c.2331G>A, XM_011534809.3:c.2331G>A, XM_011534809.2:c.2331G>A, XM_011534809.1:c.2331G>A, XM_011534810.4:c.2307G>A, XM_011534810.3:c.2307G>A, XM_011534810.2:c.2307G>A, XM_011534810.1:c.2307G>A, XM_011534812.3:c.2220G>A, XM_011534812.2:c.2220G>A, XM_011534812.1:c.2220G>A, NM_001142641.2:c.2340G>A, NM_001142641.1:c.2340G>A, XM_047429219.1:c.2391G>A, NM_001382739.1:c.2265G>A, NM_001367871.1:c.2211G>A, NM_001382740.1:c.1590G>A

Select item 148338537717.

rs1483385377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132582249 (GRCh38)
12:133158835 (GRCh37)
Canonical SPDI:: NC_000012.12:132582248:C:T
Gene:: FBRSL1 (Varview), MIR6763 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.132582249C>T, NC_000012.11:g.133158835C>T, XM_005266171.5:c.2433C>T, XM_005266171.4:c.2433C>T, XM_005266171.3:c.2433C>T, XM_005266171.2:c.2433C>T, XM_005266171.1:c.2433C>T, XM_005266173.5:c.2427C>T, XM_005266173.4:c.2427C>T, XM_005266173.3:c.2427C>T, XM_005266173.2:c.2427C>T, XM_005266173.1:c.2427C>T, XM_005266175.5:c.2364C>T, XM_005266175.4:c.2364C>T, XM_005266175.3:c.2364C>T, XM_005266175.2:c.2364C>T, XM_005266175.1:c.2364C>T, XM_005266176.5:c.2310C>T, XM_005266176.4:c.2310C>T, XM_005266176.3:c.2310C>T, XM_005266176.2:c.2310C>T, XM_005266176.1:c.2310C>T, XM_005266177.5:c.2307C>T, XM_005266177.4:c.2307C>T, XM_005266177.3:c.2307C>T, XM_005266177.2:c.2307C>T, XM_005266177.1:c.2307C>T, XM_011534803.4:c.2490C>T, XM_011534803.3:c.2490C>T, XM_011534803.2:c.2490C>T, XM_011534803.1:c.2490C>T, XM_011534804.4:c.2487C>T, XM_011534804.3:c.2487C>T, XM_011534804.2:c.2487C>T, XM_011534804.1:c.2487C>T, XM_011534806.4:c.2421C>T, XM_011534806.3:c.2421C>T, XM_011534806.2:c.2421C>T, XM_011534806.1:c.2421C>T, XM_011534805.4:c.2421C>T, XM_011534805.3:c.2421C>T, XM_011534805.2:c.2421C>T, XM_011534805.1:c.2421C>T, XM_011534807.4:c.2367C>T, XM_011534807.3:c.2367C>T, XM_011534807.2:c.2367C>T, XM_011534807.1:c.2367C>T, XM_011534808.4:c.2364C>T, XM_011534808.3:c.2364C>T, XM_011534808.2:c.2364C>T, XM_011534808.1:c.2364C>T, XM_011534809.4:c.2304C>T, XM_011534809.3:c.2304C>T, XM_011534809.2:c.2304C>T, XM_011534809.1:c.2304C>T, XM_011534810.4:c.2280C>T, XM_011534810.3:c.2280C>T, XM_011534810.2:c.2280C>T, XM_011534810.1:c.2280C>T, XM_011534812.3:c.2193C>T, XM_011534812.2:c.2193C>T, XM_011534812.1:c.2193C>T, NM_001142641.2:c.2313C>T, NM_001142641.1:c.2313C>T, XM_047429219.1:c.2364C>T, NM_001382739.1:c.2238C>T, NM_001367871.1:c.2184C>T, NM_001382740.1:c.1563C>T

Select item 148303483018.

rs1483034830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:132583642 (GRCh38)
12:133160228 (GRCh37)
Canonical SPDI:: NC_000012.12:132583641:C:A,NC_000012.12:132583641:C:G,NC_000012.12:132583641:C:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00006/1 (TOMMO)
G=0.00022/1 (Estonian)
HGVS:: NC_000012.12:g.132583642C>A, NC_000012.12:g.132583642C>G, NC_000012.12:g.132583642C>T, NC_000012.11:g.133160228C>A, NC_000012.11:g.133160228C>G, NC_000012.11:g.133160228C>T, XM_005266171.5:c.3122C>A, XM_005266171.5:c.3122C>G, XM_005266171.5:c.3122C>T, XM_005266171.4:c.3122C>A, XM_005266171.4:c.3122C>G, XM_005266171.4:c.3122C>T, XM_005266171.3:c.3122C>A, XM_005266171.3:c.3122C>G, XM_005266171.3:c.3122C>T, XM_005266171.2:c.3122C>A, XM_005266171.2:c.3122C>G, XM_005266171.2:c.3122C>T, XM_005266171.1:c.3122C>A, XM_005266171.1:c.3122C>G, XM_005266171.1:c.3122C>T, XM_005266173.5:c.3116C>A, XM_005266173.5:c.3116C>G, XM_005266173.5:c.3116C>T, XM_005266173.4:c.3116C>A, XM_005266173.4:c.3116C>G, XM_005266173.4:c.3116C>T, XM_005266173.3:c.3116C>A, XM_005266173.3:c.3116C>G, XM_005266173.3:c.3116C>T, XM_005266173.2:c.3116C>A, XM_005266173.2:c.3116C>G, XM_005266173.2:c.3116C>T, XM_005266173.1:c.3116C>A, XM_005266173.1:c.3116C>G, XM_005266173.1:c.3116C>T, XM_005266175.5:c.3053C>A, XM_005266175.5:c.3053C>G, XM_005266175.5:c.3053C>T, XM_005266175.4:c.3053C>A, XM_005266175.4:c.3053C>G, XM_005266175.4:c.3053C>T, XM_005266175.3:c.3053C>A, XM_005266175.3:c.3053C>G, XM_005266175.3:c.3053C>T, XM_005266175.2:c.3053C>A, XM_005266175.2:c.3053C>G, XM_005266175.2:c.3053C>T, XM_005266175.1:c.3053C>A, XM_005266175.1:c.3053C>G, XM_005266175.1:c.3053C>T, XM_005266176.5:c.2999C>A, XM_005266176.5:c.2999C>G, XM_005266176.5:c.2999C>T, XM_005266176.4:c.2999C>A, XM_005266176.4:c.2999C>G, XM_005266176.4:c.2999C>T, XM_005266176.3:c.2999C>A, XM_005266176.3:c.2999C>G, XM_005266176.3:c.2999C>T, XM_005266176.2:c.2999C>A, XM_005266176.2:c.2999C>G, XM_005266176.2:c.2999C>T, XM_005266176.1:c.2999C>A, XM_005266176.1:c.2999C>G, XM_005266176.1:c.2999C>T, XM_005266177.5:c.2996C>A, XM_005266177.5:c.2996C>G, XM_005266177.5:c.2996C>T, XM_005266177.4:c.2996C>A, XM_005266177.4:c.2996C>G, XM_005266177.4:c.2996C>T, XM_005266177.3:c.2996C>A, XM_005266177.3:c.2996C>G, XM_005266177.3:c.2996C>T, XM_005266177.2:c.2996C>A, XM_005266177.2:c.2996C>G, XM_005266177.2:c.2996C>T, XM_005266177.1:c.2996C>A, XM_005266177.1:c.2996C>G, XM_005266177.1:c.2996C>T, XM_011534803.4:c.3179C>A, XM_011534803.4:c.3179C>G, XM_011534803.4:c.3179C>T, XM_011534803.3:c.3179C>A, XM_011534803.3:c.3179C>G, XM_011534803.3:c.3179C>T, XM_011534803.2:c.3179C>A, XM_011534803.2:c.3179C>G, XM_011534803.2:c.3179C>T, XM_011534803.1:c.3179C>A, XM_011534803.1:c.3179C>G, XM_011534803.1:c.3179C>T, XM_011534804.4:c.3176C>A, XM_011534804.4:c.3176C>G, XM_011534804.4:c.3176C>T, XM_011534804.3:c.3176C>A, XM_011534804.3:c.3176C>G, XM_011534804.3:c.3176C>T, XM_011534804.2:c.3176C>A, XM_011534804.2:c.3176C>G, XM_011534804.2:c.3176C>T, XM_011534804.1:c.3176C>A, XM_011534804.1:c.3176C>G, XM_011534804.1:c.3176C>T, XM_011534806.4:c.3110C>A, XM_011534806.4:c.3110C>G, XM_011534806.4:c.3110C>T, XM_011534806.3:c.3110C>A, XM_011534806.3:c.3110C>G, XM_011534806.3:c.3110C>T, XM_011534806.2:c.3110C>A, XM_011534806.2:c.3110C>G, XM_011534806.2:c.3110C>T, XM_011534806.1:c.3110C>A, XM_011534806.1:c.3110C>G, XM_011534806.1:c.3110C>T, XM_011534805.4:c.3110C>A, XM_011534805.4:c.3110C>G, XM_011534805.4:c.3110C>T, XM_011534805.3:c.3110C>A, XM_011534805.3:c.3110C>G, XM_011534805.3:c.3110C>T, XM_011534805.2:c.3110C>A, XM_011534805.2:c.3110C>G, XM_011534805.2:c.3110C>T, XM_011534805.1:c.3110C>A, XM_011534805.1:c.3110C>G, XM_011534805.1:c.3110C>T, XM_011534807.4:c.3056C>A, XM_011534807.4:c.3056C>G, XM_011534807.4:c.3056C>T, XM_011534807.3:c.3056C>A, XM_011534807.3:c.3056C>G, XM_011534807.3:c.3056C>T, XM_011534807.2:c.3056C>A, XM_011534807.2:c.3056C>G, XM_011534807.2:c.3056C>T, XM_011534807.1:c.3056C>A, XM_011534807.1:c.3056C>G, XM_011534807.1:c.3056C>T, XM_011534808.4:c.3053C>A, XM_011534808.4:c.3053C>G, XM_011534808.4:c.3053C>T, XM_011534808.3:c.3053C>A, XM_011534808.3:c.3053C>G, XM_011534808.3:c.3053C>T, XM_011534808.2:c.3053C>A, XM_011534808.2:c.3053C>G, XM_011534808.2:c.3053C>T, XM_011534808.1:c.3053C>A, XM_011534808.1:c.3053C>G, XM_011534808.1:c.3053C>T, XM_011534809.4:c.2993C>A, XM_011534809.4:c.2993C>G, XM_011534809.4:c.2993C>T, XM_011534809.3:c.2993C>A, XM_011534809.3:c.2993C>G, XM_011534809.3:c.2993C>T, XM_011534809.2:c.2993C>A, XM_011534809.2:c.2993C>G, XM_011534809.2:c.2993C>T, XM_011534809.1:c.2993C>A, XM_011534809.1:c.2993C>G, XM_011534809.1:c.2993C>T, XM_011534810.4:c.2969C>A, XM_011534810.4:c.2969C>G, XM_011534810.4:c.2969C>T, XM_011534810.3:c.2969C>A, XM_011534810.3:c.2969C>G, XM_011534810.3:c.2969C>T, XM_011534810.2:c.2969C>A, XM_011534810.2:c.2969C>G, XM_011534810.2:c.2969C>T, XM_011534810.1:c.2969C>A, XM_011534810.1:c.2969C>G, XM_011534810.1:c.2969C>T, XM_011534812.3:c.2882C>A, XM_011534812.3:c.2882C>G, XM_011534812.3:c.2882C>T, XM_011534812.2:c.2882C>A, XM_011534812.2:c.2882C>G, XM_011534812.2:c.2882C>T, XM_011534812.1:c.2882C>A, XM_011534812.1:c.2882C>G, XM_011534812.1:c.2882C>T, NM_001142641.2:c.3002C>A, NM_001142641.2:c.3002C>G, NM_001142641.2:c.3002C>T, NM_001142641.1:c.3002C>A, NM_001142641.1:c.3002C>G, NM_001142641.1:c.3002C>T, XM_047429219.1:c.3053C>A, XM_047429219.1:c.3053C>G, XM_047429219.1:c.3053C>T, NM_001382739.1:c.2927C>A, NM_001382739.1:c.2927C>G, NM_001382739.1:c.2927C>T, NM_001367871.1:c.2873C>A, NM_001367871.1:c.2873C>G, NM_001367871.1:c.2873C>T, NM_001382740.1:c.2252C>A, NM_001382740.1:c.2252C>G, NM_001382740.1:c.2252C>T, XP_005266228.1:p.Pro1041His, XP_005266228.1:p.Pro1041Arg, XP_005266228.1:p.Pro1041Leu, XP_005266230.1:p.Pro1039His, XP_005266230.1:p.Pro1039Arg, XP_005266230.1:p.Pro1039Leu, XP_005266232.1:p.Pro1018His, XP_005266232.1:p.Pro1018Arg, XP_005266232.1:p.Pro1018Leu, XP_005266233.1:p.Pro1000His, XP_005266233.1:p.Pro1000Arg, XP_005266233.1:p.Pro1000Leu, XP_005266234.1:p.Pro999His, XP_005266234.1:p.Pro999Arg, XP_005266234.1:p.Pro999Leu, XP_011533105.1:p.Pro1060His, XP_011533105.1:p.Pro1060Arg, XP_011533105.1:p.Pro1060Leu, XP_011533106.1:p.Pro1059His, XP_011533106.1:p.Pro1059Arg, XP_011533106.1:p.Pro1059Leu, XP_011533108.1:p.Pro1037His, XP_011533108.1:p.Pro1037Arg, XP_011533108.1:p.Pro1037Leu, XP_011533107.1:p.Pro1037His, XP_011533107.1:p.Pro1037Arg, XP_011533107.1:p.Pro1037Leu, XP_011533109.1:p.Pro1019His, XP_011533109.1:p.Pro1019Arg, XP_011533109.1:p.Pro1019Leu, XP_011533110.1:p.Pro1018His, XP_011533110.1:p.Pro1018Arg, XP_011533110.1:p.Pro1018Leu, XP_011533111.1:p.Pro998His, XP_011533111.1:p.Pro998Arg, XP_011533111.1:p.Pro998Leu, XP_011533112.1:p.Pro990His, XP_011533112.1:p.Pro990Arg, XP_011533112.1:p.Pro990Leu, XP_011533114.1:p.Pro961His, XP_011533114.1:p.Pro961Arg, XP_011533114.1:p.Pro961Leu, NP_001136113.1:p.Pro1001His, NP_001136113.1:p.Pro1001Arg, NP_001136113.1:p.Pro1001Leu, XP_047285175.1:p.Pro1018His, XP_047285175.1:p.Pro1018Arg, XP_047285175.1:p.Pro1018Leu, NP_001369668.1:p.Pro976His, NP_001369668.1:p.Pro976Arg, NP_001369668.1:p.Pro976Leu, NP_001354800.1:p.Pro958His, NP_001354800.1:p.Pro958Arg, NP_001354800.1:p.Pro958Leu, NP_001369669.1:p.Pro751His, NP_001369669.1:p.Pro751Arg, NP_001369669.1:p.Pro751Leu

Select item 148261138019.

rs1482611380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132581502 (GRCh38)
12:133158088 (GRCh37)
Canonical SPDI:: NC_000012.12:132581501:C:T
Gene:: FBRSL1 (Varview), MIR6763 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.132581502C>T, NC_000012.11:g.133158088C>T, XM_005266171.5:c.2147C>T, XM_005266171.4:c.2147C>T, XM_005266171.3:c.2147C>T, XM_005266171.2:c.2147C>T, XM_005266171.1:c.2147C>T, XM_005266173.5:c.2141C>T, XM_005266173.4:c.2141C>T, XM_005266173.3:c.2141C>T, XM_005266173.2:c.2141C>T, XM_005266173.1:c.2141C>T, XM_005266175.5:c.2078C>T, XM_005266175.4:c.2078C>T, XM_005266175.3:c.2078C>T, XM_005266175.2:c.2078C>T, XM_005266175.1:c.2078C>T, XM_005266176.5:c.2024C>T, XM_005266176.4:c.2024C>T, XM_005266176.3:c.2024C>T, XM_005266176.2:c.2024C>T, XM_005266176.1:c.2024C>T, XM_005266177.5:c.2021C>T, XM_005266177.4:c.2021C>T, XM_005266177.3:c.2021C>T, XM_005266177.2:c.2021C>T, XM_005266177.1:c.2021C>T, XM_011534803.4:c.2204C>T, XM_011534803.3:c.2204C>T, XM_011534803.2:c.2204C>T, XM_011534803.1:c.2204C>T, XM_011534804.4:c.2201C>T, XM_011534804.3:c.2201C>T, XM_011534804.2:c.2201C>T, XM_011534804.1:c.2201C>T, XM_011534806.4:c.2135C>T, XM_011534806.3:c.2135C>T, XM_011534806.2:c.2135C>T, XM_011534806.1:c.2135C>T, XM_011534805.4:c.2135C>T, XM_011534805.3:c.2135C>T, XM_011534805.2:c.2135C>T, XM_011534805.1:c.2135C>T, XM_011534807.4:c.2081C>T, XM_011534807.3:c.2081C>T, XM_011534807.2:c.2081C>T, XM_011534807.1:c.2081C>T, XM_011534808.4:c.2078C>T, XM_011534808.3:c.2078C>T, XM_011534808.2:c.2078C>T, XM_011534808.1:c.2078C>T, XM_011534809.4:c.2018C>T, XM_011534809.3:c.2018C>T, XM_011534809.2:c.2018C>T, XM_011534809.1:c.2018C>T, XM_011534810.4:c.2078C>T, XM_011534810.3:c.2078C>T, XM_011534810.2:c.2078C>T, XM_011534810.1:c.2078C>T, XM_011534812.3:c.1907C>T, XM_011534812.2:c.1907C>T, XM_011534812.1:c.1907C>T, NM_001142641.2:c.2027C>T, NM_001142641.1:c.2027C>T, XM_047429219.1:c.2078C>T, NM_001382739.1:c.1952C>T, NM_001367871.1:c.1898C>T, NM_001382740.1:c.1277C>T, XP_005266228.1:p.Thr716Ile, XP_005266230.1:p.Thr714Ile, XP_005266232.1:p.Thr693Ile, XP_005266233.1:p.Thr675Ile, XP_005266234.1:p.Thr674Ile, XP_011533105.1:p.Thr735Ile, XP_011533106.1:p.Thr734Ile, XP_011533108.1:p.Thr712Ile, XP_011533107.1:p.Thr712Ile, XP_011533109.1:p.Thr694Ile, XP_011533110.1:p.Thr693Ile, XP_011533111.1:p.Thr673Ile, XP_011533112.1:p.Thr693Ile, XP_011533114.1:p.Thr636Ile, NP_001136113.1:p.Thr676Ile, XP_047285175.1:p.Thr693Ile, NP_001369668.1:p.Thr651Ile, NP_001354800.1:p.Thr633Ile, NP_001369669.1:p.Thr426Ile

Select item 148240236020.

rs1482402360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132583124 (GRCh38)
12:133159710 (GRCh37)
Canonical SPDI:: NC_000012.12:132583123:C:T
Gene:: FBRSL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000012.12:g.132583124C>T, NC_000012.11:g.133159710C>T, XM_005266171.5:c.2604C>T, XM_005266171.4:c.2604C>T, XM_005266171.3:c.2604C>T, XM_005266171.2:c.2604C>T, XM_005266171.1:c.2604C>T, XM_005266173.5:c.2598C>T, XM_005266173.4:c.2598C>T, XM_005266173.3:c.2598C>T, XM_005266173.2:c.2598C>T, XM_005266173.1:c.2598C>T, XM_005266175.5:c.2535C>T, XM_005266175.4:c.2535C>T, XM_005266175.3:c.2535C>T, XM_005266175.2:c.2535C>T, XM_005266175.1:c.2535C>T, XM_005266176.5:c.2481C>T, XM_005266176.4:c.2481C>T, XM_005266176.3:c.2481C>T, XM_005266176.2:c.2481C>T, XM_005266176.1:c.2481C>T, XM_005266177.5:c.2478C>T, XM_005266177.4:c.2478C>T, XM_005266177.3:c.2478C>T, XM_005266177.2:c.2478C>T, XM_005266177.1:c.2478C>T, XM_011534803.4:c.2661C>T, XM_011534803.3:c.2661C>T, XM_011534803.2:c.2661C>T, XM_011534803.1:c.2661C>T, XM_011534804.4:c.2658C>T, XM_011534804.3:c.2658C>T, XM_011534804.2:c.2658C>T, XM_011534804.1:c.2658C>T, XM_011534806.4:c.2592C>T, XM_011534806.3:c.2592C>T, XM_011534806.2:c.2592C>T, XM_011534806.1:c.2592C>T, XM_011534805.4:c.2592C>T, XM_011534805.3:c.2592C>T, XM_011534805.2:c.2592C>T, XM_011534805.1:c.2592C>T, XM_011534807.4:c.2538C>T, XM_011534807.3:c.2538C>T, XM_011534807.2:c.2538C>T, XM_011534807.1:c.2538C>T, XM_011534808.4:c.2535C>T, XM_011534808.3:c.2535C>T, XM_011534808.2:c.2535C>T, XM_011534808.1:c.2535C>T, XM_011534809.4:c.2475C>T, XM_011534809.3:c.2475C>T, XM_011534809.2:c.2475C>T, XM_011534809.1:c.2475C>T, XM_011534810.4:c.2451C>T, XM_011534810.3:c.2451C>T, XM_011534810.2:c.2451C>T, XM_011534810.1:c.2451C>T, XM_011534812.3:c.2364C>T, XM_011534812.2:c.2364C>T, XM_011534812.1:c.2364C>T, NM_001142641.2:c.2484C>T, NM_001142641.1:c.2484C>T, XM_047429219.1:c.2535C>T, NM_001382739.1:c.2409C>T, NM_001367871.1:c.2355C>T, NM_001382740.1:c.1734C>T

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