SNP Links for Nucleotide (Select 295842576) - SNP

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Select item 14910512651.

rs1491051265 has merged into rs147153783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 10:79609312 (GRCh38)
10:81369068 (GRCh37)
Canonical SPDI:: NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:79609298:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SFTPA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.10683/535 (1000Genomes)
HGVS:: NC_000010.11:g.79609312_79609316del, NC_000010.11:g.79609313_79609316del, NC_000010.11:g.79609314_79609316del, NC_000010.11:g.79609315_79609316del, NC_000010.11:g.79609316del, NC_000010.11:g.79609316dup, NC_000010.11:g.79609315_79609316dup, NC_000010.11:g.79609314_79609316dup, NC_000010.11:g.79609312_79609316dup, NC_000010.10:g.81369068_81369072del, NC_000010.10:g.81369069_81369072del, NC_000010.10:g.81369070_81369072del, NC_000010.10:g.81369071_81369072del, NC_000010.10:g.81369072del, NC_000010.10:g.81369072dup, NC_000010.10:g.81369071_81369072dup, NC_000010.10:g.81369070_81369072dup, NC_000010.10:g.81369068_81369072dup, NG_021189.1:g.3374_3378del, NG_021189.1:g.3375_3378del, NG_021189.1:g.3376_3378del, NG_021189.1:g.3377_3378del, NG_021189.1:g.3378del, NG_021189.1:g.3378dup, NG_021189.1:g.3377_3378dup, NG_021189.1:g.3376_3378dup, NG_021189.1:g.3374_3378dup

Select item 14907266612.

rs1490726661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:79614137 (GRCh38)
10:81373893 (GRCh37)
Canonical SPDI:: NC_000010.11:79614136:G:T
Gene:: SFTPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79614137G>T, NC_000010.10:g.81373893G>T, NG_021189.1:g.8199G>T, NM_005411.5:c.*24G>T, NM_005411.4:c.*24G>T, NM_001093770.3:c.*24G>T, NM_001093770.2:c.*24G>T, NM_001164644.2:c.*24G>T, NM_001164644.1:c.*24G>T, NM_001164646.2:c.*24G>T, NM_001164646.1:c.*24G>T, NM_001164645.2:c.*24G>T, NM_001164645.1:c.*24G>T, NM_001164647.1:c.*24G>T, XM_005270062.6:c.*24G>T, XM_005270062.5:c.*24G>T, XM_005270062.4:c.*24G>T, XM_005270062.3:c.*24G>T, XM_005270062.2:c.*24G>T, XM_005270062.1:c.*24G>T, XM_006717953.3:c.*24G>T, XM_006717953.2:c.*24G>T, XM_006717953.1:c.*24G>T, XM_047425668.1:c.*24G>T, XM_047425672.1:c.*24G>T, XM_047425670.1:c.*24G>T, XM_047425669.1:c.*24G>T, XM_047425667.1:c.*24G>T, XM_047425673.1:c.*24G>T, XM_047425671.1:c.*24G>T, XM_047425674.1:c.*24G>T, XM_047425675.1:c.*24G>T

Select item 14906718223.

rs1490671822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79611429 (GRCh38)
10:81371185 (GRCh37)
Canonical SPDI:: NC_000010.11:79611428:G:A
Gene:: SFTPA1 (Varview)
Functional Consequence:: intron_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_000010.11:g.79611429G>A, NC_000010.10:g.81371185G>A, NG_021189.1:g.5491G>A

Select item 14902598094.

rs1490259809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79613829 (GRCh38)
10:81373585 (GRCh37)
Canonical SPDI:: NC_000010.11:79613828:T:C
Gene:: SFTPA1 (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)
C=0.000008/2 (GnomAD_exomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.79613829T>C, NC_000010.10:g.81373585T>C, NG_021189.1:g.7891T>C, NM_005411.5:c.463T>C, NM_005411.4:c.463T>C, NM_001093770.3:c.508T>C, NM_001093770.2:c.508T>C, NM_001164644.2:c.463T>C, NM_001164644.1:c.463T>C, NM_001164646.2:c.316T>C, NM_001164646.1:c.316T>C, NM_001164645.2:c.361T>C, NM_001164645.1:c.361T>C, NM_001164647.1:c.463T>C, XM_005270062.6:c.463T>C, XM_005270062.5:c.463T>C, XM_005270062.4:c.463T>C, XM_005270062.3:c.463T>C, XM_005270062.2:c.463T>C, XM_005270062.1:c.463T>C, XM_006717953.3:c.508T>C, XM_006717953.2:c.508T>C, XM_006717953.1:c.508T>C, XM_047425668.1:c.508T>C, XM_047425672.1:c.508T>C, XM_047425670.1:c.508T>C, XM_047425669.1:c.508T>C, XM_047425667.1:c.508T>C, XM_047425673.1:c.508T>C, XM_047425671.1:c.508T>C, XM_047425674.1:c.463T>C, XM_047425675.1:c.463T>C, NP_005402.3:p.Cys155Arg, NP_001087239.2:p.Cys170Arg, NP_001158116.1:p.Cys155Arg, NP_001158118.1:p.Cys106Arg, NP_001158117.1:p.Cys121Arg, NP_001158119.1:p.Cys155Arg, XP_005270119.1:p.Cys155Arg, XP_006718016.1:p.Cys170Arg, XP_047281624.1:p.Cys170Arg, XP_047281628.1:p.Cys170Arg, XP_047281626.1:p.Cys170Arg, XP_047281625.1:p.Cys170Arg, XP_047281623.1:p.Cys170Arg, XP_047281629.1:p.Cys170Arg, XP_047281627.1:p.Cys170Arg, XP_047281630.1:p.Cys155Arg, XP_047281631.1:p.Cys155Arg

Select item 14902410135.

rs1490241013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:79609865 (GRCh38)
10:81369621 (GRCh37)
Canonical SPDI:: NC_000010.11:79609864:G:C,NC_000010.11:79609864:G:T
Gene:: SFTPA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.79609865G>C, NC_000010.11:g.79609865G>T, NC_000010.10:g.81369621G>C, NC_000010.10:g.81369621G>T, NG_021189.1:g.3927G>C, NG_021189.1:g.3927G>T

Select item 14902130836.

rs1490213083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79612041 (GRCh38)
10:81371797 (GRCh37)
Canonical SPDI:: NC_000010.11:79612040:C:T
Gene:: SFTPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79612041C>T, NC_000010.10:g.81371797C>T, NG_021189.1:g.6103C>T

Select item 14900275227.

rs1490027522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:79616121 (GRCh38)
10:81375877 (GRCh37)
Canonical SPDI:: NC_000010.11:79616120:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.79616121T>G, NC_000010.10:g.81375877T>G, NG_021189.1:g.10183T>G

Select item 14892967478.

rs1489296747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79609355 (GRCh38)
10:81369111 (GRCh37)
Canonical SPDI:: NC_000010.11:79609354:C:T
Gene:: SFTPA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.79609355C>T, NC_000010.10:g.81369111C>T, NG_021189.1:g.3417C>T

Select item 14892152479.

rs1489215247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79614800 (GRCh38)
10:81374556 (GRCh37)
Canonical SPDI:: NC_000010.11:79614799:T:C
Gene:: SFTPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79614800T>C, NC_000010.10:g.81374556T>C, NG_021189.1:g.8862T>C, NM_005411.5:c.*687T>C, NM_005411.4:c.*687T>C, NM_001093770.3:c.*687T>C, NM_001093770.2:c.*687T>C, NM_001164644.2:c.*687T>C, NM_001164644.1:c.*687T>C, NM_001164646.2:c.*687T>C, NM_001164646.1:c.*687T>C, NM_001164645.2:c.*687T>C, NM_001164645.1:c.*687T>C, NM_001164647.1:c.*687T>C, XM_005270062.6:c.*687T>C, XM_005270062.5:c.*687T>C, XM_005270062.4:c.*687T>C, XM_005270062.3:c.*687T>C, XM_005270062.2:c.*687T>C, XM_005270062.1:c.*687T>C, XM_006717953.3:c.*687T>C, XM_006717953.2:c.*687T>C, XM_006717953.1:c.*687T>C, XM_047425668.1:c.*687T>C, XM_047425672.1:c.*687T>C, XM_047425670.1:c.*687T>C, XM_047425669.1:c.*687T>C, XM_047425667.1:c.*687T>C, XM_047425673.1:c.*687T>C, XM_047425671.1:c.*687T>C, XM_047425674.1:c.*687T>C, XM_047425675.1:c.*687T>C

Select item 148885894010.

rs1488858940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:79613744 (GRCh38)
10:81373500 (GRCh37)
Canonical SPDI:: NC_000010.11:79613743:T:C
Gene:: SFTPA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79613744T>C, NC_000010.10:g.81373500T>C, NG_021189.1:g.7806T>C, NM_005411.5:c.378T>C, NM_005411.4:c.378T>C, NM_001093770.3:c.423T>C, NM_001093770.2:c.423T>C, NM_001164644.2:c.378T>C, NM_001164644.1:c.378T>C, NM_001164646.2:c.231T>C, NM_001164646.1:c.231T>C, NM_001164645.2:c.276T>C, NM_001164645.1:c.276T>C, NM_001164647.1:c.378T>C, XM_005270062.6:c.378T>C, XM_005270062.5:c.378T>C, XM_005270062.4:c.378T>C, XM_005270062.3:c.378T>C, XM_005270062.2:c.378T>C, XM_005270062.1:c.378T>C, XM_006717953.3:c.423T>C, XM_006717953.2:c.423T>C, XM_006717953.1:c.423T>C, XM_047425668.1:c.423T>C, XM_047425672.1:c.423T>C, XM_047425670.1:c.423T>C, XM_047425669.1:c.423T>C, XM_047425667.1:c.423T>C, XM_047425673.1:c.423T>C, XM_047425671.1:c.423T>C, XM_047425674.1:c.378T>C, XM_047425675.1:c.378T>C

Select item 148884416711.

rs1488844167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:79611950 (GRCh38)
10:81371706 (GRCh37)
Canonical SPDI:: NC_000010.11:79611949:C:A,NC_000010.11:79611949:C:T
Gene:: SFTPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79611950C>A, NC_000010.11:g.79611950C>T, NC_000010.10:g.81371706C>A, NC_000010.10:g.81371706C>T, NG_021189.1:g.6012C>A, NG_021189.1:g.6012C>T, NM_005411.5:c.125C>A, NM_005411.5:c.125C>T, NM_005411.4:c.125C>A, NM_005411.4:c.125C>T, NM_001093770.3:c.170C>A, NM_001093770.3:c.170C>T, NM_001093770.2:c.170C>A, NM_001093770.2:c.170C>T, NM_001164644.2:c.125C>A, NM_001164644.2:c.125C>T, NM_001164644.1:c.125C>A, NM_001164644.1:c.125C>T, NM_001164647.1:c.125C>A, NM_001164647.1:c.125C>T, XM_005270062.6:c.125C>A, XM_005270062.6:c.125C>T, XM_005270062.5:c.125C>A, XM_005270062.5:c.125C>T, XM_005270062.4:c.125C>A, XM_005270062.4:c.125C>T, XM_005270062.3:c.125C>A, XM_005270062.3:c.125C>T, XM_005270062.2:c.125C>A, XM_005270062.2:c.125C>T, XM_005270062.1:c.125C>A, XM_005270062.1:c.125C>T, XM_006717953.3:c.170C>A, XM_006717953.3:c.170C>T, XM_006717953.2:c.170C>A, XM_006717953.2:c.170C>T, XM_006717953.1:c.170C>A, XM_006717953.1:c.170C>T, XM_047425668.1:c.170C>A, XM_047425668.1:c.170C>T, XM_047425672.1:c.170C>A, XM_047425672.1:c.170C>T, XM_047425670.1:c.170C>A, XM_047425670.1:c.170C>T, XM_047425669.1:c.170C>A, XM_047425669.1:c.170C>T, XM_047425667.1:c.170C>A, XM_047425667.1:c.170C>T, XM_047425673.1:c.170C>A, XM_047425673.1:c.170C>T, XM_047425671.1:c.170C>A, XM_047425671.1:c.170C>T, XM_047425674.1:c.125C>A, XM_047425674.1:c.125C>T, XM_047425675.1:c.125C>A, XM_047425675.1:c.125C>T, NP_005402.3:p.Pro42Gln, NP_005402.3:p.Pro42Leu, NP_001087239.2:p.Pro57Gln, NP_001087239.2:p.Pro57Leu, NP_001158116.1:p.Pro42Gln, NP_001158116.1:p.Pro42Leu, NP_001158119.1:p.Pro42Gln, NP_001158119.1:p.Pro42Leu, XP_005270119.1:p.Pro42Gln, XP_005270119.1:p.Pro42Leu, XP_006718016.1:p.Pro57Gln, XP_006718016.1:p.Pro57Leu, XP_047281624.1:p.Pro57Gln, XP_047281624.1:p.Pro57Leu, XP_047281628.1:p.Pro57Gln, XP_047281628.1:p.Pro57Leu, XP_047281626.1:p.Pro57Gln, XP_047281626.1:p.Pro57Leu, XP_047281625.1:p.Pro57Gln, XP_047281625.1:p.Pro57Leu, XP_047281623.1:p.Pro57Gln, XP_047281623.1:p.Pro57Leu, XP_047281629.1:p.Pro57Gln, XP_047281629.1:p.Pro57Leu, XP_047281627.1:p.Pro57Gln, XP_047281627.1:p.Pro57Leu, XP_047281630.1:p.Pro42Gln, XP_047281630.1:p.Pro42Leu, XP_047281631.1:p.Pro42Gln, XP_047281631.1:p.Pro42Leu

Select item 148874708212.

rs1488747082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:79608981 (GRCh38)
10:81368737 (GRCh37)
Canonical SPDI:: NC_000010.11:79608980:G:C
Gene:: SFTPA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.79608981G>C, NC_000010.10:g.81368737G>C, NG_021189.1:g.3043G>C

Select item 148844766113.

rs1488447661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:79608601 (GRCh38)
10:81368357 (GRCh37)
Canonical SPDI:: NC_000010.11:79608600:C:G
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79608601C>G, NC_000010.10:g.81368357C>G, NG_021189.1:g.2663C>G

Select item 148834257014.

rs1488342570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:79610804 (GRCh38)
10:81370560 (GRCh37)
Canonical SPDI:: NC_000010.11:79610803:T:A
Gene:: SFTPA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.79610804T>A, NC_000010.10:g.81370560T>A, NG_021189.1:g.4866T>A

Select item 148824319315.

rs1488243193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79614469 (GRCh38)
10:81374225 (GRCh37)
Canonical SPDI:: NC_000010.11:79614468:C:T
Gene:: SFTPA1 (Varview)
Functional Consequence:: 3_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_000010.11:g.79614469C>T, NC_000010.10:g.81374225C>T, NG_021189.1:g.8531C>T, NM_005411.5:c.*356C>T, NM_005411.4:c.*356C>T, NM_001093770.3:c.*356C>T, NM_001093770.2:c.*356C>T, NM_001164644.2:c.*356C>T, NM_001164644.1:c.*356C>T, NM_001164646.2:c.*356C>T, NM_001164646.1:c.*356C>T, NM_001164645.2:c.*356C>T, NM_001164645.1:c.*356C>T, NM_001164647.1:c.*356C>T, XM_005270062.6:c.*356C>T, XM_005270062.5:c.*356C>T, XM_005270062.4:c.*356C>T, XM_005270062.3:c.*356C>T, XM_005270062.2:c.*356C>T, XM_005270062.1:c.*356C>T, XM_006717953.3:c.*356C>T, XM_006717953.2:c.*356C>T, XM_006717953.1:c.*356C>T, XM_047425668.1:c.*356C>T, XM_047425672.1:c.*356C>T, XM_047425670.1:c.*356C>T, XM_047425669.1:c.*356C>T, XM_047425667.1:c.*356C>T, XM_047425673.1:c.*356C>T, XM_047425671.1:c.*356C>T, XM_047425674.1:c.*356C>T, XM_047425675.1:c.*356C>T

Select item 148779013916.

rs1487790139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79607671 (GRCh38)
10:81367427 (GRCh37)
Canonical SPDI:: NC_000010.11:79607670:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.79607671C>T, NC_000010.10:g.81367427C>T, NG_021189.1:g.1733C>T

Select item 148768698217.

rs1487686982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79606751 (GRCh38)
10:81366507 (GRCh37)
Canonical SPDI:: NC_000010.11:79606750:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79606751A>G, NC_000010.10:g.81366507A>G, NG_021189.1:g.813A>G

Select item 148746576618.

rs1487465766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79608175 (GRCh38)
10:81367931 (GRCh37)
Canonical SPDI:: NC_000010.11:79608174:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.79608175A>G, NC_000010.10:g.81367931A>G, NG_021189.1:g.2237A>G

Select item 148741418119.

rs1487414181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:79609106 (GRCh38)
10:81368863 (GRCh37)
Canonical SPDI:: NC_000010.11:79609106:AAAAA:AAAAAA
Gene:: SFTPA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79609111dup, NC_000010.10:g.81368867dup, NG_021189.1:g.3173dup

Select item 148710426120.

rs1487104261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79609148 (GRCh38)
10:81368904 (GRCh37)
Canonical SPDI:: NC_000010.11:79609147:C:T
Gene:: SFTPA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000010.11:g.79609148C>T, NC_000010.10:g.81368904C>T, NG_021189.1:g.3210C>T

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