SNP Links for Protein (Select 401015111) - SNP

Select item 14904329241.

rs1490432924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:62325407 (GRCh38)
18:59992640 (GRCh37)
Canonical SPDI:: NC_000018.10:62325406:G:A
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.62325407G>A, NC_000018.9:g.59992640G>A, NG_008098.1:g.5093G>A, NM_003839.4:c.55G>A, NM_003839.3:c.55G>A, NM_001278268.2:c.55G>A, NM_001278268.1:c.55G>A, NM_001270949.2:c.55G>A, NM_001270949.1:c.55G>A, NM_001270950.2:c.55G>A, NM_001270950.1:c.55G>A, NM_001270951.2:c.55G>A, NM_001270951.1:c.55G>A, XM_011526245.3:c.-138G>A, XM_011526245.2:c.-138G>A, XM_011526245.1:c.-138G>A, XM_011526244.3:c.55G>A, XM_011526244.2:c.55G>A, XM_011526244.1:c.55G>A, NP_003830.1:p.Ala19Thr, NP_001265197.1:p.Ala19Thr, NP_001257878.1:p.Ala19Thr, NP_001257879.1:p.Ala19Thr, NP_001257880.1:p.Ala19Thr, XP_011524546.1:p.Ala19Thr

Select item 14871273722.

rs1487127372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:62366735 (GRCh38)
18:60033968 (GRCh37)
Canonical SPDI:: NC_000018.10:62366734:C:T
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.62366735C>T, NC_000018.9:g.60033968C>T, NG_008098.1:g.46421C>T, NM_003839.4:c.758C>T, NM_003839.3:c.758C>T, NM_001278268.2:c.716C>T, NM_001278268.1:c.716C>T, NM_001270949.2:c.758C>T, NM_001270949.1:c.758C>T, XM_011526245.3:c.650C>T, XM_011526245.2:c.650C>T, XM_011526245.1:c.650C>T, XM_011526244.3:c.773C>T, XM_011526244.2:c.773C>T, XM_011526244.1:c.773C>T, XM_017026064.2:c.650C>T, XM_017026064.1:c.650C>T, XM_017026065.2:c.608C>T, XM_017026065.1:c.608C>T, XM_017026066.2:c.548C>T, XM_017026066.1:c.548C>T, NP_003830.1:p.Ala253Val, NP_001265197.1:p.Ala239Val, NP_001257878.1:p.Ala253Val, XP_011524547.1:p.Ala217Val, XP_011524546.1:p.Ala258Val, XP_016881553.1:p.Ala217Val, XP_016881554.1:p.Ala203Val, XP_016881555.1:p.Ala183Val

Select item 14772019443.

rs1477201944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:62325392 (GRCh38)
18:59992625 (GRCh37)
Canonical SPDI:: NC_000018.10:62325391:C:T
Gene:: TNFRSF11A (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000018.10:g.62325392C>T, NC_000018.9:g.59992625C>T, NG_008098.1:g.5078C>T, NM_003839.4:c.40C>T, NM_003839.3:c.40C>T, NM_001278268.2:c.40C>T, NM_001278268.1:c.40C>T, NM_001270949.2:c.40C>T, NM_001270949.1:c.40C>T, NM_001270950.2:c.40C>T, NM_001270950.1:c.40C>T, NM_001270951.2:c.40C>T, NM_001270951.1:c.40C>T, XM_011526245.3:c.-153C>T, XM_011526245.2:c.-153C>T, XM_011526245.1:c.-153C>T, XM_011526244.3:c.40C>T, XM_011526244.2:c.40C>T, XM_011526244.1:c.40C>T

Select item 14765200484.

rs1476520048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:62360040 (GRCh38)
18:60027273 (GRCh37)
Canonical SPDI:: NC_000018.10:62360039:C:A
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.62360040C>A, NC_000018.9:g.60027273C>A, NG_008098.1:g.39726C>A, NM_003839.4:c.607C>A, NM_003839.3:c.607C>A, NM_001278268.2:c.565C>A, NM_001278268.1:c.565C>A, NM_001270949.2:c.607C>A, NM_001270949.1:c.607C>A, NM_001270950.2:c.607C>A, NM_001270950.1:c.607C>A, NM_001270951.2:c.607C>A, NM_001270951.1:c.607C>A, XM_011526245.3:c.499C>A, XM_011526245.2:c.499C>A, XM_011526245.1:c.499C>A, XM_011526244.3:c.622C>A, XM_011526244.2:c.622C>A, XM_011526244.1:c.622C>A, XM_017026064.2:c.499C>A, XM_017026064.1:c.499C>A, XM_017026065.2:c.457C>A, XM_017026065.1:c.457C>A, XM_017026066.2:c.397C>A, XM_017026066.1:c.397C>A, NP_003830.1:p.Pro203Thr, NP_001265197.1:p.Pro189Thr, NP_001257878.1:p.Pro203Thr, NP_001257879.1:p.Pro203Thr, NP_001257880.1:p.Pro203Thr, XP_011524547.1:p.Pro167Thr, XP_011524546.1:p.Pro208Thr, XP_016881553.1:p.Pro167Thr, XP_016881554.1:p.Pro153Thr, XP_016881555.1:p.Pro133Thr

Select item 14733076375.

rs1473307637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:62349855 (GRCh38)
18:60017088 (GRCh37)
Canonical SPDI:: NC_000018.10:62349854:A:T
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62349855A>T, NC_000018.9:g.60017088A>T, NG_008098.1:g.29541A>T, NM_003839.4:c.201A>T, NM_003839.3:c.201A>T, NM_001278268.2:c.201A>T, NM_001278268.1:c.201A>T, NM_001270949.2:c.201A>T, NM_001270949.1:c.201A>T, NM_001270950.2:c.201A>T, NM_001270950.1:c.201A>T, NM_001270951.2:c.201A>T, NM_001270951.1:c.201A>T, XM_011526245.3:c.83A>T, XM_011526245.2:c.83A>T, XM_011526245.1:c.83A>T, XM_011526244.3:c.201A>T, XM_011526244.2:c.201A>T, XM_011526244.1:c.201A>T, XM_017026064.2:c.83A>T, XM_017026064.1:c.83A>T, XM_017026065.2:c.36A>T, XM_017026065.1:c.36A>T, XM_017026066.2:c.-20A>T, XM_017026066.1:c.-20A>T, XP_011524547.1:p.Tyr28Phe, XP_016881553.1:p.Tyr28Phe

Select item 14682231796.

rs1468223179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:62349839 (GRCh38)
18:60017072 (GRCh37)
Canonical SPDI:: NC_000018.10:62349838:C:G
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62349839C>G, NC_000018.9:g.60017072C>G, NG_008098.1:g.29525C>G, NM_003839.4:c.185C>G, NM_003839.3:c.185C>G, NM_001278268.2:c.185C>G, NM_001278268.1:c.185C>G, NM_001270949.2:c.185C>G, NM_001270949.1:c.185C>G, NM_001270950.2:c.185C>G, NM_001270950.1:c.185C>G, NM_001270951.2:c.185C>G, NM_001270951.1:c.185C>G, XM_011526245.3:c.67C>G, XM_011526245.2:c.67C>G, XM_011526245.1:c.67C>G, XM_011526244.3:c.185C>G, XM_011526244.2:c.185C>G, XM_011526244.1:c.185C>G, XM_017026064.2:c.67C>G, XM_017026064.1:c.67C>G, XM_017026065.2:c.20C>G, XM_017026065.1:c.20C>G, XM_017026066.2:c.-36C>G, XM_017026066.1:c.-36C>G, NP_003830.1:p.Thr62Ser, NP_001265197.1:p.Thr62Ser, NP_001257878.1:p.Thr62Ser, NP_001257879.1:p.Thr62Ser, NP_001257880.1:p.Thr62Ser, XP_011524547.1:p.Leu23Val, XP_011524546.1:p.Thr62Ser, XP_016881553.1:p.Leu23Val, XP_016881554.1:p.Thr7Ser

Select item 14681194407.

rs1468119440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:62360010 (GRCh38)
18:60027243 (GRCh37)
Canonical SPDI:: NC_000018.10:62360009:G:A
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62360010G>A, NC_000018.9:g.60027243G>A, NG_008098.1:g.39696G>A, NM_003839.4:c.577G>A, NM_003839.3:c.577G>A, NM_001278268.2:c.535G>A, NM_001278268.1:c.535G>A, NM_001270949.2:c.577G>A, NM_001270949.1:c.577G>A, NM_001270950.2:c.577G>A, NM_001270950.1:c.577G>A, NM_001270951.2:c.577G>A, NM_001270951.1:c.577G>A, XM_011526245.3:c.469G>A, XM_011526245.2:c.469G>A, XM_011526245.1:c.469G>A, XM_011526244.3:c.592G>A, XM_011526244.2:c.592G>A, XM_011526244.1:c.592G>A, XM_017026064.2:c.469G>A, XM_017026064.1:c.469G>A, XM_017026065.2:c.427G>A, XM_017026065.1:c.427G>A, XM_017026066.2:c.367G>A, XM_017026066.1:c.367G>A, NP_003830.1:p.Val193Ile, NP_001265197.1:p.Val179Ile, NP_001257878.1:p.Val193Ile, NP_001257879.1:p.Val193Ile, NP_001257880.1:p.Val193Ile, XP_011524547.1:p.Val157Ile, XP_011524546.1:p.Val198Ile, XP_016881553.1:p.Val157Ile, XP_016881554.1:p.Val143Ile, XP_016881555.1:p.Val123Ile

Select item 14641692698.

rs1464169269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:62366720 (GRCh38)
18:60033953 (GRCh37)
Canonical SPDI:: NC_000018.10:62366719:A:C
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62366720A>C, NC_000018.9:g.60033953A>C, NG_008098.1:g.46406A>C, NM_003839.4:c.743A>C, NM_003839.3:c.743A>C, NM_001278268.2:c.701A>C, NM_001278268.1:c.701A>C, NM_001270949.2:c.743A>C, NM_001270949.1:c.743A>C, XM_011526245.3:c.635A>C, XM_011526245.2:c.635A>C, XM_011526245.1:c.635A>C, XM_011526244.3:c.758A>C, XM_011526244.2:c.758A>C, XM_011526244.1:c.758A>C, XM_017026064.2:c.635A>C, XM_017026064.1:c.635A>C, XM_017026065.2:c.593A>C, XM_017026065.1:c.593A>C, XM_017026066.2:c.533A>C, XM_017026066.1:c.533A>C, NP_003830.1:p.His248Pro, NP_001265197.1:p.His234Pro, NP_001257878.1:p.His248Pro, XP_011524547.1:p.His212Pro, XP_011524546.1:p.His253Pro, XP_016881553.1:p.His212Pro, XP_016881554.1:p.His198Pro, XP_016881555.1:p.His178Pro

Select item 14616473059.

rs1461647305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:62349869 (GRCh38)
18:60017102 (GRCh37)
Canonical SPDI:: NC_000018.10:62349868:G:C
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62349869G>C, NC_000018.9:g.60017102G>C, NG_008098.1:g.29555G>C, NM_003839.4:c.215G>C, NM_003839.3:c.215G>C, NM_001278268.2:c.215G>C, NM_001278268.1:c.215G>C, NM_001270949.2:c.215G>C, NM_001270949.1:c.215G>C, NM_001270950.2:c.215G>C, NM_001270950.1:c.215G>C, NM_001270951.2:c.215G>C, NM_001270951.1:c.215G>C, XM_011526245.3:c.97G>C, XM_011526245.2:c.97G>C, XM_011526245.1:c.97G>C, XM_011526244.3:c.215G>C, XM_011526244.2:c.215G>C, XM_011526244.1:c.215G>C, XM_017026064.2:c.97G>C, XM_017026064.1:c.97G>C, XM_017026065.2:c.50G>C, XM_017026065.1:c.50G>C, XM_017026066.2:c.-6G>C, XM_017026066.1:c.-6G>C, NP_003830.1:p.Gly72Ala, NP_001265197.1:p.Gly72Ala, NP_001257878.1:p.Gly72Ala, NP_001257879.1:p.Gly72Ala, NP_001257880.1:p.Gly72Ala, XP_011524547.1:p.Ala33Pro, XP_011524546.1:p.Gly72Ala, XP_016881553.1:p.Ala33Pro, XP_016881554.1:p.Gly17Ala

Select item 144424543710.

rs1444245437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:62348196 (GRCh38)
18:60015429 (GRCh37)
Canonical SPDI:: NC_000018.10:62348195:C:G
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62348196C>G, NC_000018.9:g.60015429C>G, NG_008098.1:g.27882C>G, NM_003839.4:c.104C>G, NM_003839.3:c.104C>G, NM_001278268.2:c.104C>G, NM_001278268.1:c.104C>G, NM_001270949.2:c.104C>G, NM_001270949.1:c.104C>G, NM_001270950.2:c.104C>G, NM_001270950.1:c.104C>G, NM_001270951.2:c.104C>G, NM_001270951.1:c.104C>G, XM_011526245.3:c.-15C>G, XM_011526245.2:c.-15C>G, XM_011526245.1:c.-15C>G, XM_011526244.3:c.104C>G, XM_011526244.2:c.104C>G, XM_011526244.1:c.104C>G, XM_017026064.2:c.-15C>G, XM_017026064.1:c.-15C>G, XM_017026065.2:c.-187C>G, XM_017026065.1:c.-187C>G, XM_017026066.2:c.-242C>G, XM_017026066.1:c.-242C>G, NP_003830.1:p.Thr35Ser, NP_001265197.1:p.Thr35Ser, NP_001257878.1:p.Thr35Ser, NP_001257879.1:p.Thr35Ser, NP_001257880.1:p.Thr35Ser, XP_011524546.1:p.Thr35Ser

Select item 144319451611.

rs1443194516 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 18:62361770 (GRCh38)
18:60029003 (GRCh37)
Canonical SPDI:: NC_000018.10:62361769:GG:G
Gene:: TNFRSF11A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000018.10:g.62361771del, NC_000018.9:g.60029004del, NG_008098.1:g.41457del, NM_003839.4:c.708del, NM_003839.3:c.708del, NM_001278268.2:c.666del, NM_001278268.1:c.666del, NM_001270949.2:c.708del, NM_001270949.1:c.708del, NM_001270950.2:c.708del, NM_001270950.1:c.708del, XM_011526245.3:c.600del, XM_011526245.2:c.600del, XM_011526245.1:c.600del, XM_011526244.3:c.723del, XM_011526244.2:c.723del, XM_011526244.1:c.723del, XM_017026064.2:c.600del, XM_017026064.1:c.600del, XM_017026065.2:c.558del, XM_017026065.1:c.558del, XM_017026066.2:c.498del, XM_017026066.1:c.498del, NP_003830.1:p.Ala241fs, NP_001265197.1:p.Ala227fs, NP_001257878.1:p.Ala241fs, NP_001257879.1:p.Ala241fs, XP_011524547.1:p.Ala205fs, XP_011524546.1:p.Ala246fs, XP_016881553.1:p.Ala205fs, XP_016881554.1:p.Ala191fs, XP_016881555.1:p.Ala171fs

Select item 144196354012.

rs1441963540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:62348207 (GRCh38)
18:60015440 (GRCh37)
Canonical SPDI:: NC_000018.10:62348206:C:G
Gene:: TNFRSF11A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.62348207C>G, NC_000018.9:g.60015440C>G, NG_008098.1:g.27893C>G, NM_003839.4:c.115C>G, NM_003839.3:c.115C>G, NM_001278268.2:c.115C>G, NM_001278268.1:c.115C>G, NM_001270949.2:c.115C>G, NM_001270949.1:c.115C>G, NM_001270950.2:c.115C>G, NM_001270950.1:c.115C>G, NM_001270951.2:c.115C>G, NM_001270951.1:c.115C>G, XM_011526245.3:c.-4C>G, XM_011526245.2:c.-4C>G, XM_011526245.1:c.-4C>G, XM_011526244.3:c.115C>G, XM_011526244.2:c.115C>G, XM_011526244.1:c.115C>G, XM_017026064.2:c.-4C>G, XM_017026064.1:c.-4C>G, XM_017026065.2:c.-176C>G, XM_017026065.1:c.-176C>G, XM_017026066.2:c.-231C>G, XM_017026066.1:c.-231C>G, NP_003830.1:p.His39Asp, NP_001265197.1:p.His39Asp, NP_001257878.1:p.His39Asp, NP_001257879.1:p.His39Asp, NP_001257880.1:p.His39Asp, XP_011524546.1:p.His39Asp

Select item 143837986513.

rs1438379865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:62354500 (GRCh38)
18:60021733 (GRCh37)
Canonical SPDI:: NC_000018.10:62354499:C:T
Gene:: TNFRSF11A (Varview)
Functional Consequence:: 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=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.62354500C>T, NC_000018.9:g.60021733C>T, NG_008098.1:g.34186C>T, NM_003839.4:c.393C>T, NM_003839.3:c.393C>T, NM_001278268.2:c.393C>T, NM_001278268.1:c.393C>T, NM_001270949.2:c.393C>T, NM_001270949.1:c.393C>T, NM_001270950.2:c.393C>T, NM_001270950.1:c.393C>T, NM_001270951.2:c.393C>T, NM_001270951.1:c.393C>T, XM_011526245.3:c.275C>T, XM_011526245.2:c.275C>T, XM_011526245.1:c.275C>T, XM_011526244.3:c.393C>T, XM_011526244.2:c.393C>T, XM_011526244.1:c.393C>T, XM_017026064.2:c.275C>T, XM_017026064.1:c.275C>T, XM_017026065.2:c.228C>T, XM_017026065.1:c.228C>T, XM_017026066.2:c.173C>T, XM_017026066.1:c.173C>T, XP_011524547.1:p.Pro92Leu, XP_016881553.1:p.Pro92Leu, XP_016881555.1:p.Pro58Leu

Select item 143713664314.

rs1437136643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:62325412 (GRCh38)
18:59992645 (GRCh37)
Canonical SPDI:: NC_000018.10:62325411:G:A,NC_000018.10:62325411:G:C
Gene:: TNFRSF11A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.62325412G>A, NC_000018.10:g.62325412G>C, NC_000018.9:g.59992645G>A, NC_000018.9:g.59992645G>C, NG_008098.1:g.5098G>A, NG_008098.1:g.5098G>C, NM_003839.4:c.60G>A, NM_003839.4:c.60G>C, NM_003839.3:c.60G>A, NM_003839.3:c.60G>C, NM_001278268.2:c.60G>A, NM_001278268.2:c.60G>C, NM_001278268.1:c.60G>A, NM_001278268.1:c.60G>C, NM_001270949.2:c.60G>A, NM_001270949.2:c.60G>C, NM_001270949.1:c.60G>A, NM_001270949.1:c.60G>C, NM_001270950.2:c.60G>A, NM_001270950.2:c.60G>C, NM_001270950.1:c.60G>A, NM_001270950.1:c.60G>C, NM_001270951.2:c.60G>A, NM_001270951.2:c.60G>C, NM_001270951.1:c.60G>A, NM_001270951.1:c.60G>C, XM_011526245.3:c.-133G>A, XM_011526245.3:c.-133G>C, XM_011526245.2:c.-133G>A, XM_011526245.2:c.-133G>C, XM_011526245.1:c.-133G>A, XM_011526245.1:c.-133G>C, XM_011526244.3:c.60G>A, XM_011526244.3:c.60G>C, XM_011526244.2:c.60G>A, XM_011526244.2:c.60G>C, XM_011526244.1:c.60G>A, XM_011526244.1:c.60G>C

Select item 143600395715.

rs1436003957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:62349852 (GRCh38)
18:60017085 (GRCh37)
Canonical SPDI:: NC_000018.10:62349851:T:C
Gene:: TNFRSF11A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62349852T>C, NC_000018.9:g.60017085T>C, NG_008098.1:g.29538T>C, NM_003839.4:c.198T>C, NM_003839.3:c.198T>C, NM_001278268.2:c.198T>C, NM_001278268.1:c.198T>C, NM_001270949.2:c.198T>C, NM_001270949.1:c.198T>C, NM_001270950.2:c.198T>C, NM_001270950.1:c.198T>C, NM_001270951.2:c.198T>C, NM_001270951.1:c.198T>C, XM_011526245.3:c.80T>C, XM_011526245.2:c.80T>C, XM_011526245.1:c.80T>C, XM_011526244.3:c.198T>C, XM_011526244.2:c.198T>C, XM_011526244.1:c.198T>C, XM_017026064.2:c.80T>C, XM_017026064.1:c.80T>C, XM_017026065.2:c.33T>C, XM_017026065.1:c.33T>C, XM_017026066.2:c.-23T>C, XM_017026066.1:c.-23T>C, XP_011524547.1:p.Val27Ala, XP_016881553.1:p.Val27Ala

Select item 142757140916.

rs1427571409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:62354402 (GRCh38)
18:60021635 (GRCh37)
Canonical SPDI:: NC_000018.10:62354401:G:A
Gene:: TNFRSF11A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62354402G>A, NC_000018.9:g.60021635G>A, NG_008098.1:g.34088G>A, NM_003839.4:c.295G>A, NM_003839.3:c.295G>A, NM_001278268.2:c.295G>A, NM_001278268.1:c.295G>A, NM_001270949.2:c.295G>A, NM_001270949.1:c.295G>A, NM_001270950.2:c.295G>A, NM_001270950.1:c.295G>A, NM_001270951.2:c.295G>A, NM_001270951.1:c.295G>A, XM_011526245.3:c.177G>A, XM_011526245.2:c.177G>A, XM_011526245.1:c.177G>A, XM_011526244.3:c.295G>A, XM_011526244.2:c.295G>A, XM_011526244.1:c.295G>A, XM_017026064.2:c.177G>A, XM_017026064.1:c.177G>A, XM_017026065.2:c.130G>A, XM_017026065.1:c.130G>A, XM_017026066.2:c.75G>A, XM_017026066.1:c.75G>A, NP_003830.1:p.Val99Met, NP_001265197.1:p.Val99Met, NP_001257878.1:p.Val99Met, NP_001257879.1:p.Val99Met, NP_001257880.1:p.Val99Met, XP_011524547.1:p.Trp59Ter, XP_011524546.1:p.Val99Met, XP_016881553.1:p.Trp59Ter, XP_016881554.1:p.Val44Met, XP_016881555.1:p.Trp25Ter

Select item 141664520117.

rs1416645201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:62349864 (GRCh38)
18:60017097 (GRCh37)
Canonical SPDI:: NC_000018.10:62349863:C:G
Gene:: TNFRSF11A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62349864C>G, NC_000018.9:g.60017097C>G, NG_008098.1:g.29550C>G, NM_003839.4:c.210C>G, NM_003839.3:c.210C>G, NM_001278268.2:c.210C>G, NM_001278268.1:c.210C>G, NM_001270949.2:c.210C>G, NM_001270949.1:c.210C>G, NM_001270950.2:c.210C>G, NM_001270950.1:c.210C>G, NM_001270951.2:c.210C>G, NM_001270951.1:c.210C>G, XM_011526245.3:c.92C>G, XM_011526245.2:c.92C>G, XM_011526245.1:c.92C>G, XM_011526244.3:c.210C>G, XM_011526244.2:c.210C>G, XM_011526244.1:c.210C>G, XM_017026064.2:c.92C>G, XM_017026064.1:c.92C>G, XM_017026065.2:c.45C>G, XM_017026065.1:c.45C>G, XM_017026066.2:c.-11C>G, XM_017026066.1:c.-11C>G, XP_011524547.1:p.Pro31Arg, XP_016881553.1:p.Pro31Arg

Select item 141217111118.

rs1412171111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:62360041 (GRCh38)
18:60027274 (GRCh37)
Canonical SPDI:: NC_000018.10:62360040:C:T
Gene:: TNFRSF11A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.62360041C>T, NC_000018.9:g.60027274C>T, NG_008098.1:g.39727C>T, NM_003839.4:c.608C>T, NM_003839.3:c.608C>T, NM_001278268.2:c.566C>T, NM_001278268.1:c.566C>T, NM_001270949.2:c.608C>T, NM_001270949.1:c.608C>T, NM_001270950.2:c.608C>T, NM_001270950.1:c.608C>T, NM_001270951.2:c.608C>T, NM_001270951.1:c.608C>T, XM_011526245.3:c.500C>T, XM_011526245.2:c.500C>T, XM_011526245.1:c.500C>T, XM_011526244.3:c.623C>T, XM_011526244.2:c.623C>T, XM_011526244.1:c.623C>T, XM_017026064.2:c.500C>T, XM_017026064.1:c.500C>T, XM_017026065.2:c.458C>T, XM_017026065.1:c.458C>T, XM_017026066.2:c.398C>T, XM_017026066.1:c.398C>T, NP_003830.1:p.Pro203Leu, NP_001265197.1:p.Pro189Leu, NP_001257878.1:p.Pro203Leu, NP_001257879.1:p.Pro203Leu, NP_001257880.1:p.Pro203Leu, XP_011524547.1:p.Pro167Leu, XP_011524546.1:p.Pro208Leu, XP_016881553.1:p.Pro167Leu, XP_016881554.1:p.Pro153Leu, XP_016881555.1:p.Pro133Leu

Select item 141203091519.

rs1412030915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:62349854 (GRCh38)
18:60017087 (GRCh37)
Canonical SPDI:: NC_000018.10:62349853:T:C
Gene:: TNFRSF11A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.62349854T>C, NC_000018.9:g.60017087T>C, NG_008098.1:g.29540T>C, NM_003839.4:c.200T>C, NM_003839.3:c.200T>C, NM_001278268.2:c.200T>C, NM_001278268.1:c.200T>C, NM_001270949.2:c.200T>C, NM_001270949.1:c.200T>C, NM_001270950.2:c.200T>C, NM_001270950.1:c.200T>C, NM_001270951.2:c.200T>C, NM_001270951.1:c.200T>C, XM_011526245.3:c.82T>C, XM_011526245.2:c.82T>C, XM_011526245.1:c.82T>C, XM_011526244.3:c.200T>C, XM_011526244.2:c.200T>C, XM_011526244.1:c.200T>C, XM_017026064.2:c.82T>C, XM_017026064.1:c.82T>C, XM_017026065.2:c.35T>C, XM_017026065.1:c.35T>C, XM_017026066.2:c.-21T>C, XM_017026066.1:c.-21T>C, NP_003830.1:p.Val67Ala, NP_001265197.1:p.Val67Ala, NP_001257878.1:p.Val67Ala, NP_001257879.1:p.Val67Ala, NP_001257880.1:p.Val67Ala, XP_011524547.1:p.Tyr28His, XP_011524546.1:p.Val67Ala, XP_016881553.1:p.Tyr28His, XP_016881554.1:p.Val12Ala

Select item 141058424420.

rs1410584244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:62349885 (GRCh38)
18:60017118 (GRCh37)
Canonical SPDI:: NC_000018.10:62349884:G:A
Gene:: TNFRSF11A (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant
HGVS:: NC_000018.10:g.62349885G>A, NC_000018.9:g.60017118G>A, NG_008098.1:g.29571G>A, NM_003839.4:c.231G>A, NM_003839.3:c.231G>A, NM_001278268.2:c.231G>A, NM_001278268.1:c.231G>A, NM_001270949.2:c.231G>A, NM_001270949.1:c.231G>A, NM_001270950.2:c.231G>A, NM_001270950.1:c.231G>A, NM_001270951.2:c.231G>A, NM_001270951.1:c.231G>A, XM_011526245.3:c.113G>A, XM_011526245.2:c.113G>A, XM_011526245.1:c.113G>A, XM_011526244.3:c.231G>A, XM_011526244.2:c.231G>A, XM_011526244.1:c.231G>A, XM_017026064.2:c.113G>A, XM_017026064.1:c.113G>A, XM_017026065.2:c.66G>A, XM_017026065.1:c.66G>A, XM_017026066.2:c.11G>A, XM_017026066.1:c.11G>A, XP_011524547.1:p.Trp38Ter, XP_016881553.1:p.Trp38Ter, XP_016881555.1:p.Trp4Ter

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