SNP Links for Protein (Select 227452379) - SNP

Links from Protein

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Select item 14892494961.

rs1489249496 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:98281894 (GRCh38)
7:97911206 (GRCh37)
Canonical SPDI:: NC_000007.14:98281893:CCCC:CCC
Gene:: BRI3 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.98281897del, NC_000007.13:g.97911209del, NM_015379.5:c.102del, NM_015379.4:c.102del, XM_017011932.3:c.102del, XM_017011932.2:c.102del, XM_017011932.1:c.102del, XM_017011933.3:c.102del, XM_017011933.2:c.102del, XM_017011933.1:c.102del, XM_017011931.3:c.102del, XM_017011931.2:c.102del, XM_017011931.1:c.102del, XM_017011934.3:c.102del, XM_017011934.2:c.102del, XM_017011934.1:c.102del, XM_017011936.2:c.102del, XM_017011936.1:c.102del, NM_001159491.2:c.102del, NM_001159491.1:c.102del, XR_007059998.1:n.212del, XR_007059996.1:n.212del, XR_007059997.1:n.212del, XR_007060000.1:n.212del, XR_007059999.1:n.212del, XM_047420117.1:c.102del, XM_047420116.1:c.102del, NP_056194.1:p.Ala35fs, XP_016867421.1:p.Ala35fs, XP_016867422.1:p.Ala35fs, XP_016867420.1:p.Ala35fs, XP_016867423.1:p.Ala35fs, XP_016867425.1:p.Ala35fs, NP_001152963.1:p.Ala35fs, XP_047276073.1:p.Ala35fs, XP_047276072.1:p.Ala35fs

Select item 14892178222.

rs1489217822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:98292650 (GRCh38)
7:97921962 (GRCh37)
Canonical SPDI:: NC_000007.14:98292649:C:T
Gene:: BRI3 (Varview), BAIAP2L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000045/12 (TOPMED)
T=0.000078/12 (GnomAD_exomes)
HGVS:: NC_000007.14:g.98292650C>T, NC_000007.13:g.97921962C>T, NG_013090.1:g.113466G>A, NM_018842.5:c.*871G>A, NM_018842.4:c.*871G>A, NM_001159491.2:c.257C>T, NM_001159491.1:c.257C>T, NP_001152963.1:p.Ser86Leu

Select item 14850546143.

rs1485054614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:98281873 (GRCh38)
7:97911185 (GRCh37)
Canonical SPDI:: NC_000007.14:98281872:C:T
Gene:: BRI3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.98281873C>T, NC_000007.13:g.97911185C>T, NM_015379.5:c.78C>T, NM_015379.4:c.78C>T, XM_017011932.3:c.78C>T, XM_017011932.2:c.78C>T, XM_017011932.1:c.78C>T, XM_017011933.3:c.78C>T, XM_017011933.2:c.78C>T, XM_017011933.1:c.78C>T, XM_017011931.3:c.78C>T, XM_017011931.2:c.78C>T, XM_017011931.1:c.78C>T, XM_017011934.3:c.78C>T, XM_017011934.2:c.78C>T, XM_017011934.1:c.78C>T, XM_017011936.2:c.78C>T, XM_017011936.1:c.78C>T, NM_001159491.2:c.78C>T, NM_001159491.1:c.78C>T, XR_007059998.1:n.188C>T, XR_007059996.1:n.188C>T, XR_007059997.1:n.188C>T, XR_007060000.1:n.188C>T, XR_007059999.1:n.188C>T, XM_047420117.1:c.78C>T, XM_047420116.1:c.78C>T

Select item 14808802154.

rs1480880215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:98281810 (GRCh38)
7:97911122 (GRCh37)
Canonical SPDI:: NC_000007.14:98281809:G:A
Gene:: BRI3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.98281810G>A, NC_000007.13:g.97911122G>A, NM_015379.5:c.15G>A, NM_015379.4:c.15G>A, XM_017011932.3:c.15G>A, XM_017011932.2:c.15G>A, XM_017011932.1:c.15G>A, XM_017011933.3:c.15G>A, XM_017011933.2:c.15G>A, XM_017011933.1:c.15G>A, XM_017011931.3:c.15G>A, XM_017011931.2:c.15G>A, XM_017011931.1:c.15G>A, XM_017011934.3:c.15G>A, XM_017011934.2:c.15G>A, XM_017011934.1:c.15G>A, XM_017011936.2:c.15G>A, XM_017011936.1:c.15G>A, NM_001159491.2:c.15G>A, NM_001159491.1:c.15G>A, XR_007059998.1:n.125G>A, XR_007059996.1:n.125G>A, XR_007059997.1:n.125G>A, XR_007060000.1:n.125G>A, XR_007059999.1:n.125G>A, XM_047420117.1:c.15G>A, XM_047420116.1:c.15G>A

Select item 14799879465.

rs1479987946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:98282374 (GRCh38)
7:97911686 (GRCh37)
Canonical SPDI:: NC_000007.14:98282373:G:A
Gene:: BRI3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.98282374G>A, NC_000007.13:g.97911686G>A, NM_015379.5:c.166G>A, NM_015379.4:c.166G>A, XM_017011932.3:c.206G>A, XM_017011932.2:c.206G>A, XM_017011932.1:c.206G>A, XM_017011933.3:c.206G>A, XM_017011933.2:c.206G>A, XM_017011933.1:c.206G>A, XM_017011931.3:c.206G>A, XM_017011931.2:c.206G>A, XM_017011931.1:c.206G>A, XM_017011934.3:c.206G>A, XM_017011934.2:c.206G>A, XM_017011934.1:c.206G>A, XM_017011936.2:c.166G>A, XM_017011936.1:c.166G>A, NM_001159491.2:c.166G>A, NM_001159491.1:c.166G>A, XR_007059998.1:n.276G>A, XR_007059996.1:n.316G>A, XR_007059997.1:n.316G>A, XR_007060000.1:n.276G>A, XR_007059999.1:n.276G>A, XM_047420117.1:c.166G>A, XM_047420116.1:c.206G>A, NP_056194.1:p.Val56Ile, XP_016867421.1:p.Gly69Asp, XP_016867422.1:p.Gly69Asp, XP_016867420.1:p.Gly69Asp, XP_016867423.1:p.Gly69Asp, XP_016867425.1:p.Val56Ile, NP_001152963.1:p.Val56Ile, XP_047276073.1:p.Val56Ile, XP_047276072.1:p.Gly69Asp

Select item 14692797066.

rs1469279706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:98281926 (GRCh38)
7:97911238 (GRCh37)
Canonical SPDI:: NC_000007.14:98281925:A:C,NC_000007.14:98281925:A:G
Gene:: BRI3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000038/10 (TOPMED)
G=0.000196/1 (GnomAD_exomes)
C=0.000425/12 (TOMMO)
HGVS:: NC_000007.14:g.98281926A>C, NC_000007.14:g.98281926A>G, NC_000007.13:g.97911238A>C, NC_000007.13:g.97911238A>G, NM_015379.5:c.131A>C, NM_015379.5:c.131A>G, NM_015379.4:c.131A>C, NM_015379.4:c.131A>G, XM_017011932.3:c.131A>C, XM_017011932.3:c.131A>G, XM_017011932.2:c.131A>C, XM_017011932.2:c.131A>G, XM_017011932.1:c.131A>C, XM_017011932.1:c.131A>G, XM_017011933.3:c.131A>C, XM_017011933.3:c.131A>G, XM_017011933.2:c.131A>C, XM_017011933.2:c.131A>G, XM_017011933.1:c.131A>C, XM_017011933.1:c.131A>G, XM_017011931.3:c.131A>C, XM_017011931.3:c.131A>G, XM_017011931.2:c.131A>C, XM_017011931.2:c.131A>G, XM_017011931.1:c.131A>C, XM_017011931.1:c.131A>G, XM_017011934.3:c.131A>C, XM_017011934.3:c.131A>G, XM_017011934.2:c.131A>C, XM_017011934.2:c.131A>G, XM_017011934.1:c.131A>C, XM_017011934.1:c.131A>G, XM_017011936.2:c.131A>C, XM_017011936.2:c.131A>G, XM_017011936.1:c.131A>C, XM_017011936.1:c.131A>G, NM_001159491.2:c.131A>C, NM_001159491.2:c.131A>G, NM_001159491.1:c.131A>C, NM_001159491.1:c.131A>G, XR_007059998.1:n.241A>C, XR_007059998.1:n.241A>G, XR_007059996.1:n.241A>C, XR_007059996.1:n.241A>G, XR_007059997.1:n.241A>C, XR_007059997.1:n.241A>G, XR_007060000.1:n.241A>C, XR_007060000.1:n.241A>G, XR_007059999.1:n.241A>C, XR_007059999.1:n.241A>G, XM_047420117.1:c.131A>C, XM_047420117.1:c.131A>G, XM_047420116.1:c.131A>C, XM_047420116.1:c.131A>G, NP_056194.1:p.Tyr44Ser, NP_056194.1:p.Tyr44Cys, XP_016867421.1:p.Tyr44Ser, XP_016867421.1:p.Tyr44Cys, XP_016867422.1:p.Tyr44Ser, XP_016867422.1:p.Tyr44Cys, XP_016867420.1:p.Tyr44Ser, XP_016867420.1:p.Tyr44Cys, XP_016867423.1:p.Tyr44Ser, XP_016867423.1:p.Tyr44Cys, XP_016867425.1:p.Tyr44Ser, XP_016867425.1:p.Tyr44Cys, NP_001152963.1:p.Tyr44Ser, NP_001152963.1:p.Tyr44Cys, XP_047276073.1:p.Tyr44Ser, XP_047276073.1:p.Tyr44Cys, XP_047276072.1:p.Tyr44Ser, XP_047276072.1:p.Tyr44Cys

Select item 14652297957.

rs1465229795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:98282376 (GRCh38)
7:97911688 (GRCh37)
Canonical SPDI:: NC_000007.14:98282375:C:T
Gene:: BRI3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.98282376C>T, NC_000007.13:g.97911688C>T, NM_015379.5:c.168C>T, NM_015379.4:c.168C>T, XM_017011932.3:c.208C>T, XM_017011932.2:c.208C>T, XM_017011932.1:c.208C>T, XM_017011933.3:c.208C>T, XM_017011933.2:c.208C>T, XM_017011933.1:c.208C>T, XM_017011931.3:c.208C>T, XM_017011931.2:c.208C>T, XM_017011931.1:c.208C>T, XM_017011934.3:c.208C>T, XM_017011934.2:c.208C>T, XM_017011934.1:c.208C>T, XM_017011936.2:c.168C>T, XM_017011936.1:c.168C>T, NM_001159491.2:c.168C>T, NM_001159491.1:c.168C>T, XR_007059998.1:n.278C>T, XR_007059996.1:n.318C>T, XR_007059997.1:n.318C>T, XR_007060000.1:n.278C>T, XR_007059999.1:n.278C>T, XM_047420117.1:c.168C>T, XM_047420116.1:c.208C>T

Select item 14600842338.

rs1460084233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:98282424 (GRCh38)
7:97911736 (GRCh37)
Canonical SPDI:: NC_000007.14:98282423:C:T
Gene:: BRI3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.98282424C>T, NC_000007.13:g.97911736C>T, NM_015379.5:c.216C>T, NM_015379.4:c.216C>T, XM_017011932.3:c.256C>T, XM_017011932.2:c.256C>T, XM_017011932.1:c.256C>T, XM_017011933.3:c.256C>T, XM_017011933.2:c.256C>T, XM_017011933.1:c.256C>T, XM_017011931.3:c.256C>T, XM_017011931.2:c.256C>T, XM_017011931.1:c.256C>T, XM_017011934.3:c.256C>T, XM_017011934.2:c.256C>T, XM_017011934.1:c.256C>T, XM_017011936.2:c.216C>T, XM_017011936.1:c.216C>T, NM_001159491.2:c.216C>T, NM_001159491.1:c.216C>T, XR_007059998.1:n.326C>T, XR_007059996.1:n.366C>T, XR_007059997.1:n.366C>T, XR_007060000.1:n.326C>T, XR_007059999.1:n.326C>T, XM_047420117.1:c.216C>T, XM_047420116.1:c.256C>T, XP_016867421.1:p.Arg86Cys, XP_016867422.1:p.Arg86Cys, XP_016867420.1:p.Arg86Cys, XP_016867423.1:p.Arg86Cys, XP_047276072.1:p.Arg86Cys

Select item 14426653419.

rs1442665341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:98292660 (GRCh38)
7:97921972 (GRCh37)
Canonical SPDI:: NC_000007.14:98292659:T:C
Gene:: BRI3 (Varview), BAIAP2L1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.98292660T>C, NC_000007.13:g.97921972T>C, NG_013090.1:g.113456A>G, NM_018842.5:c.*861A>G, NM_018842.4:c.*861A>G, NM_001159491.2:c.267T>C, NM_001159491.1:c.267T>C

Select item 142382361210.

rs1423823612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:98281908 (GRCh38)
7:97911220 (GRCh37)
Canonical SPDI:: NC_000007.14:98281907:C:G,NC_000007.14:98281907:C:T
Gene:: BRI3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
G=0.000208/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.98281908C>G, NC_000007.14:g.98281908C>T, NC_000007.13:g.97911220C>G, NC_000007.13:g.97911220C>T, NM_015379.5:c.113C>G, NM_015379.5:c.113C>T, NM_015379.4:c.113C>G, NM_015379.4:c.113C>T, XM_017011932.3:c.113C>G, XM_017011932.3:c.113C>T, XM_017011932.2:c.113C>G, XM_017011932.2:c.113C>T, XM_017011932.1:c.113C>G, XM_017011932.1:c.113C>T, XM_017011933.3:c.113C>G, XM_017011933.3:c.113C>T, XM_017011933.2:c.113C>G, XM_017011933.2:c.113C>T, XM_017011933.1:c.113C>G, XM_017011933.1:c.113C>T, XM_017011931.3:c.113C>G, XM_017011931.3:c.113C>T, XM_017011931.2:c.113C>G, XM_017011931.2:c.113C>T, XM_017011931.1:c.113C>G, XM_017011931.1:c.113C>T, XM_017011934.3:c.113C>G, XM_017011934.3:c.113C>T, XM_017011934.2:c.113C>G, XM_017011934.2:c.113C>T, XM_017011934.1:c.113C>G, XM_017011934.1:c.113C>T, XM_017011936.2:c.113C>G, XM_017011936.2:c.113C>T, XM_017011936.1:c.113C>G, XM_017011936.1:c.113C>T, NM_001159491.2:c.113C>G, NM_001159491.2:c.113C>T, NM_001159491.1:c.113C>G, NM_001159491.1:c.113C>T, XR_007059998.1:n.223C>G, XR_007059998.1:n.223C>T, XR_007059996.1:n.223C>G, XR_007059996.1:n.223C>T, XR_007059997.1:n.223C>G, XR_007059997.1:n.223C>T, XR_007060000.1:n.223C>G, XR_007060000.1:n.223C>T, XR_007059999.1:n.223C>G, XR_007059999.1:n.223C>T, XM_047420117.1:c.113C>G, XM_047420117.1:c.113C>T, XM_047420116.1:c.113C>G, XM_047420116.1:c.113C>T, NP_056194.1:p.Pro38Arg, NP_056194.1:p.Pro38Leu, XP_016867421.1:p.Pro38Arg, XP_016867421.1:p.Pro38Leu, XP_016867422.1:p.Pro38Arg, XP_016867422.1:p.Pro38Leu, XP_016867420.1:p.Pro38Arg, XP_016867420.1:p.Pro38Leu, XP_016867423.1:p.Pro38Arg, XP_016867423.1:p.Pro38Leu, XP_016867425.1:p.Pro38Arg, XP_016867425.1:p.Pro38Leu, NP_001152963.1:p.Pro38Arg, NP_001152963.1:p.Pro38Leu, XP_047276073.1:p.Pro38Arg, XP_047276073.1:p.Pro38Leu, XP_047276072.1:p.Pro38Arg, XP_047276072.1:p.Pro38Leu

Select item 141676501011.

rs1416765010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:98292667 (GRCh38)
7:97921979 (GRCh37)
Canonical SPDI:: NC_000007.14:98292666:T:C
Gene:: BRI3 (Varview), BAIAP2L1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.98292667T>C, NC_000007.13:g.97921979T>C, NG_013090.1:g.113449A>G, NM_018842.5:c.*854A>G, NM_018842.4:c.*854A>G, NM_001159491.2:c.274T>C, NM_001159491.1:c.274T>C, NP_001152963.1:p.Tyr92His