SNP Links for Nucleotide (Select 195232757) - SNP

Select item 14897683891.

rs1489768389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:174931090 (GRCh38)
4:175852241 (GRCh37)
Canonical SPDI:: NC_000004.12:174931089:C:T
Gene:: ADAM29 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.004717/1 (Vietnamese)
HGVS:: NC_000004.12:g.174931090C>T, NC_000004.11:g.175852241C>T, NM_014269.4:c.-346C>T, XM_011531557.2:c.-661C>T, XM_011531557.1:c.-661C>T, XM_011531556.2:c.-503C>T, XM_011531556.1:c.-503C>T, XM_011531560.2:c.-422C>T, XM_011531560.1:c.-422C>T, XM_011531559.2:c.-395C>T, XM_011531559.1:c.-395C>T, XM_011531561.2:c.-314C>T, XM_011531561.1:c.-314C>T, NM_001278125.1:c.-346C>T, NM_001278126.1:c.-400C>T, NM_001130703.1:c.-265C>T, NM_001130704.1:c.-346C>T, NM_001130705.1:c.-265C>T

Select item 14892458802.

rs1489245880 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGGA [Show Flanks]
Chromosome:: 4:174931086 (GRCh38)
4:175852238 (GRCh37)
Canonical SPDI:: NC_000004.12:174931086:A:ACGGGA
Gene:: ADAM29 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACGGGA=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.174931087_174931088insCGGGA, NC_000004.11:g.175852238_175852239insCGGGA, NM_014269.4:c.-349_-348insCGGGA, XM_011531557.2:c.-664_-663insCGGGA, XM_011531557.1:c.-664_-663insCGGGA, XM_011531556.2:c.-506_-505insCGGGA, XM_011531556.1:c.-506_-505insCGGGA, XM_011531560.2:c.-425_-424insCGGGA, XM_011531560.1:c.-425_-424insCGGGA, XM_011531559.2:c.-398_-397insCGGGA, XM_011531559.1:c.-398_-397insCGGGA, XM_011531561.2:c.-317_-316insCGGGA, XM_011531561.1:c.-317_-316insCGGGA, NM_001278125.1:c.-349_-348insCGGGA, NM_001278126.1:c.-403_-402insCGGGA, NM_001130703.1:c.-268_-267insCGGGA, NM_001130704.1:c.-349_-348insCGGGA, NM_001130705.1:c.-268_-267insCGGGA

Select item 14888673073.

rs1488867307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:174977786 (GRCh38)
4:175898937 (GRCh37)
Canonical SPDI:: NC_000004.12:174977785:T:C
Gene:: ADAM29 (Varview), LOC124900871 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.174977786T>C, NC_000004.11:g.175898937T>C, NM_014269.4:c.2261T>C, XM_011531557.2:c.2261T>C, XM_011531557.1:c.2261T>C, XM_011531556.2:c.2261T>C, XM_011531556.1:c.2261T>C, XM_011531560.2:c.2261T>C, XM_011531560.1:c.2261T>C, XM_011531559.2:c.2261T>C, XM_011531559.1:c.2261T>C, XM_011531561.2:c.2261T>C, XM_011531561.1:c.2261T>C, NM_001278125.1:c.2261T>C, NM_001278126.1:c.2261T>C, NM_001130703.1:c.2261T>C, NM_001130704.1:c.2261T>C, NM_001130705.1:c.2261T>C, NM_001278127.1:c.2261T>C, NM_021780.1:c.2261T>C, NP_055084.3:p.Val754Ala, XP_011529859.1:p.Val754Ala, XP_011529858.1:p.Val754Ala, XP_011529862.1:p.Val754Ala, XP_011529861.1:p.Val754Ala, XP_011529863.1:p.Val754Ala, NP_001265054.1:p.Val754Ala, NP_001265055.1:p.Val754Ala, NP_001124175.1:p.Val754Ala, NP_001124176.1:p.Val754Ala, NP_001124177.1:p.Val754Ala, NP_001265056.1:p.Val754Ala

Select item 14886371994.

rs1488637199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:174977767 (GRCh38)
4:175898918 (GRCh37)
Canonical SPDI:: NC_000004.12:174977766:T:C
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.174977767T>C, NC_000004.11:g.175898918T>C, NM_014269.4:c.2242T>C, XM_011531557.2:c.2242T>C, XM_011531557.1:c.2242T>C, XM_011531556.2:c.2242T>C, XM_011531556.1:c.2242T>C, XM_011531560.2:c.2242T>C, XM_011531560.1:c.2242T>C, XM_011531559.2:c.2242T>C, XM_011531559.1:c.2242T>C, XM_011531561.2:c.2242T>C, XM_011531561.1:c.2242T>C, NM_001278125.1:c.2242T>C, NM_001278126.1:c.2242T>C, NM_001130703.1:c.2242T>C, NM_001130704.1:c.2242T>C, NM_001130705.1:c.2242T>C, NM_001278127.1:c.2242T>C, NM_021780.1:c.2242T>C, NP_055084.3:p.Ser748Pro, XP_011529859.1:p.Ser748Pro, XP_011529858.1:p.Ser748Pro, XP_011529862.1:p.Ser748Pro, XP_011529861.1:p.Ser748Pro, XP_011529863.1:p.Ser748Pro, NP_001265054.1:p.Ser748Pro, NP_001265055.1:p.Ser748Pro, NP_001124175.1:p.Ser748Pro, NP_001124176.1:p.Ser748Pro, NP_001124177.1:p.Ser748Pro, NP_001265056.1:p.Ser748Pro

Select item 14886062765.

rs1488606276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:174976208 (GRCh38)
4:175897359 (GRCh37)
Canonical SPDI:: NC_000004.12:174976207:T:C
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_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_000004.12:g.174976208T>C, NC_000004.11:g.175897359T>C, NM_014269.4:c.683T>C, XM_011531557.2:c.683T>C, XM_011531557.1:c.683T>C, XM_011531556.2:c.683T>C, XM_011531556.1:c.683T>C, XM_011531560.2:c.683T>C, XM_011531560.1:c.683T>C, XM_011531559.2:c.683T>C, XM_011531559.1:c.683T>C, XM_011531561.2:c.683T>C, XM_011531561.1:c.683T>C, NM_001278125.1:c.683T>C, NM_001278126.1:c.683T>C, NM_001130703.1:c.683T>C, NM_001130704.1:c.683T>C, NM_001130705.1:c.683T>C, NM_001278127.1:c.683T>C, NM_021779.1:c.683T>C, NM_021780.1:c.683T>C, NP_055084.3:p.Ile228Thr, XP_011529859.1:p.Ile228Thr, XP_011529858.1:p.Ile228Thr, XP_011529862.1:p.Ile228Thr, XP_011529861.1:p.Ile228Thr, XP_011529863.1:p.Ile228Thr, NP_001265054.1:p.Ile228Thr, NP_001265055.1:p.Ile228Thr, NP_001124175.1:p.Ile228Thr, NP_001124176.1:p.Ile228Thr, NP_001124177.1:p.Ile228Thr, NP_001265056.1:p.Ile228Thr

Select item 14881218786.

rs1488121878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:174931161 (GRCh38)
4:175852312 (GRCh37)
Canonical SPDI:: NC_000004.12:174931160:G:C
Gene:: ADAM29 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.174931161G>C, NC_000004.11:g.175852312G>C, NM_014269.4:c.-275G>C, XM_011531557.2:c.-590G>C, XM_011531557.1:c.-590G>C, XM_011531556.2:c.-432G>C, XM_011531556.1:c.-432G>C, XM_011531560.2:c.-351G>C, XM_011531560.1:c.-351G>C, XM_011531559.2:c.-324G>C, XM_011531559.1:c.-324G>C, XM_011531561.2:c.-243G>C, XM_011531561.1:c.-243G>C, NM_001278125.1:c.-275G>C, NM_001278126.1:c.-329G>C, NM_001130703.1:c.-194G>C, NM_001130704.1:c.-275G>C, NM_001130705.1:c.-194G>C

Select item 14878218127.

rs1487821812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:174978026 (GRCh38)
4:175899177 (GRCh37)
Canonical SPDI:: NC_000004.12:174978025:C:A
Gene:: ADAM29 (Varview), LOC124900871 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.174978026C>A, NC_000004.11:g.175899177C>A, NM_014269.4:c.*38C>A, XM_011531557.2:c.*38C>A, XM_011531557.1:c.*38C>A, XM_011531556.2:c.*38C>A, XM_011531556.1:c.*38C>A, XM_011531560.2:c.*38C>A, XM_011531560.1:c.*38C>A, XM_011531559.2:c.*38C>A, XM_011531559.1:c.*38C>A, XM_011531561.2:c.*38C>A, XM_011531561.1:c.*38C>A, NM_001278125.1:c.*38C>A, NM_001278126.1:c.*38C>A, NM_001130703.1:c.*38C>A, NM_001130704.1:c.*38C>A, NM_001130705.1:c.*38C>A, NM_001278127.1:c.*38C>A

Select item 14876035418.

rs1487603541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:174931012 (GRCh38)
4:175852163 (GRCh37)
Canonical SPDI:: NC_000004.12:174931011:A:C
Gene:: ADAM29 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.174931012A>C, NC_000004.11:g.175852163A>C, NM_014269.4:c.-424A>C, XM_011531557.2:c.-739A>C, XM_011531557.1:c.-739A>C, XM_011531556.2:c.-581A>C, XM_011531556.1:c.-581A>C, XM_011531560.2:c.-500A>C, XM_011531560.1:c.-500A>C, XM_011531559.2:c.-473A>C, XM_011531559.1:c.-473A>C, XM_011531561.2:c.-392A>C, XM_011531561.1:c.-392A>C, NM_001278125.1:c.-424A>C, NM_001278126.1:c.-478A>C, NM_001130703.1:c.-343A>C, NM_001130704.1:c.-424A>C, NM_001130705.1:c.-343A>C

Select item 14863125569.

rs1486312556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:174976313 (GRCh38)
4:175897464 (GRCh37)
Canonical SPDI:: NC_000004.12:174976312:G:A
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.174976313G>A, NC_000004.11:g.175897464G>A, NM_014269.4:c.788G>A, XM_011531557.2:c.788G>A, XM_011531557.1:c.788G>A, XM_011531556.2:c.788G>A, XM_011531556.1:c.788G>A, XM_011531560.2:c.788G>A, XM_011531560.1:c.788G>A, XM_011531559.2:c.788G>A, XM_011531559.1:c.788G>A, XM_011531561.2:c.788G>A, XM_011531561.1:c.788G>A, NM_001278125.1:c.788G>A, NM_001278126.1:c.788G>A, NM_001130703.1:c.788G>A, NM_001130704.1:c.788G>A, NM_001130705.1:c.788G>A, NM_001278127.1:c.788G>A, NM_021779.1:c.788G>A, NM_021780.1:c.788G>A, NP_055084.3:p.Arg263Lys, XP_011529859.1:p.Arg263Lys, XP_011529858.1:p.Arg263Lys, XP_011529862.1:p.Arg263Lys, XP_011529861.1:p.Arg263Lys, XP_011529863.1:p.Arg263Lys, NP_001265054.1:p.Arg263Lys, NP_001265055.1:p.Arg263Lys, NP_001124175.1:p.Arg263Lys, NP_001124176.1:p.Arg263Lys, NP_001124177.1:p.Arg263Lys, NP_001265056.1:p.Arg263Lys

Select item 148630984110.

rs1486309841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:174976765 (GRCh38)
4:175897916 (GRCh37)
Canonical SPDI:: NC_000004.12:174976764:G:A,NC_000004.12:174976764:G:C
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.174976765G>A, NC_000004.12:g.174976765G>C, NC_000004.11:g.175897916G>A, NC_000004.11:g.175897916G>C, NM_014269.4:c.1240G>A, NM_014269.4:c.1240G>C, XM_011531557.2:c.1240G>A, XM_011531557.2:c.1240G>C, XM_011531557.1:c.1240G>A, XM_011531557.1:c.1240G>C, XM_011531556.2:c.1240G>A, XM_011531556.2:c.1240G>C, XM_011531556.1:c.1240G>A, XM_011531556.1:c.1240G>C, XM_011531560.2:c.1240G>A, XM_011531560.2:c.1240G>C, XM_011531560.1:c.1240G>A, XM_011531560.1:c.1240G>C, XM_011531559.2:c.1240G>A, XM_011531559.2:c.1240G>C, XM_011531559.1:c.1240G>A, XM_011531559.1:c.1240G>C, XM_011531561.2:c.1240G>A, XM_011531561.2:c.1240G>C, XM_011531561.1:c.1240G>A, XM_011531561.1:c.1240G>C, NM_001278125.1:c.1240G>A, NM_001278125.1:c.1240G>C, NM_001278126.1:c.1240G>A, NM_001278126.1:c.1240G>C, NM_001130703.1:c.1240G>A, NM_001130703.1:c.1240G>C, NM_001130704.1:c.1240G>A, NM_001130704.1:c.1240G>C, NM_001130705.1:c.1240G>A, NM_001130705.1:c.1240G>C, NM_001278127.1:c.1240G>A, NM_001278127.1:c.1240G>C, NM_021779.1:c.1240G>A, NM_021779.1:c.1240G>C, NM_021780.1:c.1240G>A, NM_021780.1:c.1240G>C, NP_055084.3:p.Gly414Arg, NP_055084.3:p.Gly414Arg, XP_011529859.1:p.Gly414Arg, XP_011529859.1:p.Gly414Arg, XP_011529858.1:p.Gly414Arg, XP_011529858.1:p.Gly414Arg, XP_011529862.1:p.Gly414Arg, XP_011529862.1:p.Gly414Arg, XP_011529861.1:p.Gly414Arg, XP_011529861.1:p.Gly414Arg, XP_011529863.1:p.Gly414Arg, XP_011529863.1:p.Gly414Arg, NP_001265054.1:p.Gly414Arg, NP_001265054.1:p.Gly414Arg, NP_001265055.1:p.Gly414Arg, NP_001265055.1:p.Gly414Arg, NP_001124175.1:p.Gly414Arg, NP_001124175.1:p.Gly414Arg, NP_001124176.1:p.Gly414Arg, NP_001124176.1:p.Gly414Arg, NP_001124177.1:p.Gly414Arg, NP_001124177.1:p.Gly414Arg, NP_001265056.1:p.Gly414Arg, NP_001265056.1:p.Gly414Arg

Select item 148516700211.

rs1485167002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:174977916 (GRCh38)
4:175899067 (GRCh37)
Canonical SPDI:: NC_000004.12:174977915:T:G
Gene:: ADAM29 (Varview), LOC124900871 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.174977916T>G, NC_000004.11:g.175899067T>G, NM_014269.4:c.2391T>G, XM_011531557.2:c.2391T>G, XM_011531557.1:c.2391T>G, XM_011531556.2:c.2391T>G, XM_011531556.1:c.2391T>G, XM_011531560.2:c.2391T>G, XM_011531560.1:c.2391T>G, XM_011531559.2:c.2391T>G, XM_011531559.1:c.2391T>G, XM_011531561.2:c.2391T>G, XM_011531561.1:c.2391T>G, NM_001278125.1:c.2391T>G, NM_001278126.1:c.2391T>G, NM_001130703.1:c.2391T>G, NM_001130704.1:c.2391T>G, NM_001130705.1:c.2391T>G, NM_001278127.1:c.2391T>G, NM_021779.1:c.2229T>G

Select item 148457082412.

rs1484570824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:174977771 (GRCh38)
4:175898922 (GRCh37)
Canonical SPDI:: NC_000004.12:174977770:A:C
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.174977771A>C, NC_000004.11:g.175898922A>C, NM_014269.4:c.2246A>C, XM_011531557.2:c.2246A>C, XM_011531557.1:c.2246A>C, XM_011531556.2:c.2246A>C, XM_011531556.1:c.2246A>C, XM_011531560.2:c.2246A>C, XM_011531560.1:c.2246A>C, XM_011531559.2:c.2246A>C, XM_011531559.1:c.2246A>C, XM_011531561.2:c.2246A>C, XM_011531561.1:c.2246A>C, NM_001278125.1:c.2246A>C, NM_001278126.1:c.2246A>C, NM_001130703.1:c.2246A>C, NM_001130704.1:c.2246A>C, NM_001130705.1:c.2246A>C, NM_001278127.1:c.2246A>C, NM_021780.1:c.2246A>C, NP_055084.3:p.Gln749Pro, XP_011529859.1:p.Gln749Pro, XP_011529858.1:p.Gln749Pro, XP_011529862.1:p.Gln749Pro, XP_011529861.1:p.Gln749Pro, XP_011529863.1:p.Gln749Pro, NP_001265054.1:p.Gln749Pro, NP_001265055.1:p.Gln749Pro, NP_001124175.1:p.Gln749Pro, NP_001124176.1:p.Gln749Pro, NP_001124177.1:p.Gln749Pro, NP_001265056.1:p.Gln749Pro

Select item 148358603313.

rs1483586033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:174975741 (GRCh38)
4:175896892 (GRCh37)
Canonical SPDI:: NC_000004.12:174975740:T:C
Gene:: ADAM29 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.174975741T>C, NC_000004.11:g.175896892T>C, NM_014269.4:c.216T>C, XM_011531557.2:c.216T>C, XM_011531557.1:c.216T>C, XM_011531556.2:c.216T>C, XM_011531556.1:c.216T>C, XM_011531560.2:c.216T>C, XM_011531560.1:c.216T>C, XM_011531559.2:c.216T>C, XM_011531559.1:c.216T>C, XM_011531561.2:c.216T>C, XM_011531561.1:c.216T>C, NM_001278125.1:c.216T>C, NM_001278126.1:c.216T>C, NM_001130703.1:c.216T>C, NM_001130704.1:c.216T>C, NM_001130705.1:c.216T>C, NM_001278127.1:c.216T>C, NM_021779.1:c.216T>C, NM_021780.1:c.216T>C

Select item 148215363514.

rs1482153635 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTT>- [Show Flanks]
Chromosome:: 4:174977586 (GRCh38)
4:175898737 (GRCh37)
Canonical SPDI:: NC_000004.12:174977582:TTTGTTT:TTT
Gene:: ADAM29 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.174977586_174977589del, NC_000004.11:g.175898737_175898740del, NM_014269.4:c.2061_2064del, XM_011531557.2:c.2061_2064del, XM_011531557.1:c.2061_2064del, XM_011531556.2:c.2061_2064del, XM_011531556.1:c.2061_2064del, XM_011531560.2:c.2061_2064del, XM_011531560.1:c.2061_2064del, XM_011531559.2:c.2061_2064del, XM_011531559.1:c.2061_2064del, XM_011531561.2:c.2061_2064del, XM_011531561.1:c.2061_2064del, NM_001278125.1:c.2061_2064del, NM_001278126.1:c.2061_2064del, NM_001130703.1:c.2061_2064del, NM_001130704.1:c.2061_2064del, NM_001130705.1:c.2061_2064del, NM_001278127.1:c.2061_2064del, NM_021779.1:c.2061_2064del, NM_021780.1:c.2061_2064del, NP_055084.3:p.Ile689fs, XP_011529859.1:p.Ile689fs, XP_011529858.1:p.Ile689fs, XP_011529862.1:p.Ile689fs, XP_011529861.1:p.Ile689fs, XP_011529863.1:p.Ile689fs, NP_001265054.1:p.Ile689fs, NP_001265055.1:p.Ile689fs, NP_001124175.1:p.Ile689fs, NP_001124176.1:p.Ile689fs, NP_001124177.1:p.Ile689fs, NP_001265056.1:p.Ile689fs

Select item 148212981315.

rs1482129813 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTATATCCTGCCCT [Show Flanks]
Chromosome:: 4:174975680 (GRCh38)
4:175896832 (GRCh37)
Canonical SPDI:: NC_000004.12:174975680:CTCCTATATCCTGCCCT:CTCCTATATCCTGCCCTCCTATATCCTGCCCT
Gene:: ADAM29 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: CTCCTATATCCTGCC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.174975683_174975697dup, NC_000004.11:g.175896834_175896848dup, NM_014269.4:c.158_172dup, XM_011531557.2:c.158_172dup, XM_011531557.1:c.158_172dup, XM_011531556.2:c.158_172dup, XM_011531556.1:c.158_172dup, XM_011531560.2:c.158_172dup, XM_011531560.1:c.158_172dup, XM_011531559.2:c.158_172dup, XM_011531559.1:c.158_172dup, XM_011531561.2:c.158_172dup, XM_011531561.1:c.158_172dup, NM_001278125.1:c.158_172dup, NM_001278126.1:c.158_172dup, NM_001130703.1:c.158_172dup, NM_001130704.1:c.158_172dup, NM_001130705.1:c.158_172dup, NM_001278127.1:c.158_172dup, NM_021779.1:c.158_172dup, NM_021780.1:c.158_172dup, NP_055084.3:p.Ser53_Pro57dup, XP_011529859.1:p.Ser53_Pro57dup, XP_011529858.1:p.Ser53_Pro57dup, XP_011529862.1:p.Ser53_Pro57dup, XP_011529861.1:p.Ser53_Pro57dup, XP_011529863.1:p.Ser53_Pro57dup, NP_001265054.1:p.Ser53_Pro57dup, NP_001265055.1:p.Ser53_Pro57dup, NP_001124175.1:p.Ser53_Pro57dup, NP_001124176.1:p.Ser53_Pro57dup, NP_001124177.1:p.Ser53_Pro57dup, NP_001265056.1:p.Ser53_Pro57dup

Select item 148208218616.

rs1482082186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:174920783 (GRCh38)
4:175841934 (GRCh37)
Canonical SPDI:: NC_000004.12:174920782:G:T
Gene:: ADAM29 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000004.12:g.174920783G>T, NC_000004.11:g.175841934G>T, NM_014269.4:c.-460G>T, XM_011531557.2:c.-775G>T, XM_011531557.1:c.-775G>T, XM_011531556.2:c.-617G>T, XM_011531556.1:c.-617G>T, XM_011531560.2:c.-536G>T, XM_011531560.1:c.-536G>T, XM_011531559.2:c.-509G>T, XM_011531559.1:c.-509G>T, XM_011531561.2:c.-428G>T, XM_011531561.1:c.-428G>T, NM_001278125.1:c.-460G>T, NM_001278126.1:c.-514G>T, NM_001130703.1:c.-379G>T

Select item 148158168017.

rs1481581680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:174977522 (GRCh38)
4:175898673 (GRCh37)
Canonical SPDI:: NC_000004.12:174977521:C:A
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.174977522C>A, NC_000004.11:g.175898673C>A, NM_014269.4:c.1997C>A, XM_011531557.2:c.1997C>A, XM_011531557.1:c.1997C>A, XM_011531556.2:c.1997C>A, XM_011531556.1:c.1997C>A, XM_011531560.2:c.1997C>A, XM_011531560.1:c.1997C>A, XM_011531559.2:c.1997C>A, XM_011531559.1:c.1997C>A, XM_011531561.2:c.1997C>A, XM_011531561.1:c.1997C>A, NM_001278125.1:c.1997C>A, NM_001278126.1:c.1997C>A, NM_001130703.1:c.1997C>A, NM_001130704.1:c.1997C>A, NM_001130705.1:c.1997C>A, NM_001278127.1:c.1997C>A, NM_021779.1:c.1997C>A, NM_021780.1:c.1997C>A, NP_055084.3:p.Pro666Gln, XP_011529859.1:p.Pro666Gln, XP_011529858.1:p.Pro666Gln, XP_011529862.1:p.Pro666Gln, XP_011529861.1:p.Pro666Gln, XP_011529863.1:p.Pro666Gln, NP_001265054.1:p.Pro666Gln, NP_001265055.1:p.Pro666Gln, NP_001124175.1:p.Pro666Gln, NP_001124176.1:p.Pro666Gln, NP_001124177.1:p.Pro666Gln, NP_001265056.1:p.Pro666Gln

Select item 148062447518.

rs1480624475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:174978180 (GRCh38)
4:175899331 (GRCh37)
Canonical SPDI:: NC_000004.12:174978179:A:G
Gene:: ADAM29 (Varview), LOC124900871 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.174978180A>G, NC_000004.11:g.175899331A>G, NM_014269.4:c.*192A>G, XM_011531557.2:c.*192A>G, XM_011531557.1:c.*192A>G, XM_011531556.2:c.*192A>G, XM_011531556.1:c.*192A>G, XM_011531560.2:c.*192A>G, XM_011531560.1:c.*192A>G, XM_011531559.2:c.*192A>G, XM_011531559.1:c.*192A>G, XM_011531561.2:c.*192A>G, XM_011531561.1:c.*192A>G, NM_001278125.1:c.*192A>G, NM_001278126.1:c.*192A>G, NM_001130703.1:c.*192A>G, NM_001130704.1:c.*192A>G, NM_001130705.1:c.*192A>G, NM_001278127.1:c.*192A>G

Select item 148014461819.

rs1480144618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:174975833 (GRCh38)
4:175896984 (GRCh37)
Canonical SPDI:: NC_000004.12:174975832:A:G
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.174975833A>G, NC_000004.11:g.175896984A>G, NM_014269.4:c.308A>G, XM_011531557.2:c.308A>G, XM_011531557.1:c.308A>G, XM_011531556.2:c.308A>G, XM_011531556.1:c.308A>G, XM_011531560.2:c.308A>G, XM_011531560.1:c.308A>G, XM_011531559.2:c.308A>G, XM_011531559.1:c.308A>G, XM_011531561.2:c.308A>G, XM_011531561.1:c.308A>G, NM_001278125.1:c.308A>G, NM_001278126.1:c.308A>G, NM_001130703.1:c.308A>G, NM_001130704.1:c.308A>G, NM_001130705.1:c.308A>G, NM_001278127.1:c.308A>G, NM_021779.1:c.308A>G, NM_021780.1:c.308A>G, NP_055084.3:p.His103Arg, XP_011529859.1:p.His103Arg, XP_011529858.1:p.His103Arg, XP_011529862.1:p.His103Arg, XP_011529861.1:p.His103Arg, XP_011529863.1:p.His103Arg, NP_001265054.1:p.His103Arg, NP_001265055.1:p.His103Arg, NP_001124175.1:p.His103Arg, NP_001124176.1:p.His103Arg, NP_001124177.1:p.His103Arg, NP_001265056.1:p.His103Arg

Select item 147958924820.

rs1479589248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:174977623 (GRCh38)
4:175898774 (GRCh37)
Canonical SPDI:: NC_000004.12:174977622:A:C
Gene:: ADAM29 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.174977623A>C, NC_000004.11:g.175898774A>C, NM_014269.4:c.2098A>C, XM_011531557.2:c.2098A>C, XM_011531557.1:c.2098A>C, XM_011531556.2:c.2098A>C, XM_011531556.1:c.2098A>C, XM_011531560.2:c.2098A>C, XM_011531560.1:c.2098A>C, XM_011531559.2:c.2098A>C, XM_011531559.1:c.2098A>C, XM_011531561.2:c.2098A>C, XM_011531561.1:c.2098A>C, NM_001278125.1:c.2098A>C, NM_001278126.1:c.2098A>C, NM_001130703.1:c.2098A>C, NM_001130704.1:c.2098A>C, NM_001130705.1:c.2098A>C, NM_001278127.1:c.2098A>C, NM_021779.1:c.2098A>C, NM_021780.1:c.2098A>C, NP_055084.3:p.Lys700Gln, XP_011529859.1:p.Lys700Gln, XP_011529858.1:p.Lys700Gln, XP_011529862.1:p.Lys700Gln, XP_011529861.1:p.Lys700Gln, XP_011529863.1:p.Lys700Gln, NP_001265054.1:p.Lys700Gln, NP_001265055.1:p.Lys700Gln, NP_001124175.1:p.Lys700Gln, NP_001124176.1:p.Lys700Gln, NP_001124177.1:p.Lys700Gln, NP_001265056.1:p.Lys700Gln

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